Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis (BANDDOS): Disease-Characteristics Report

Executive summary

BANDDOS is an exceptionally rare, usually congenital or childhood-onset autosomal-recessive microgliopathy and skeletal dysplasia caused by biallelic loss-of-function variants in CSF1R. It combines developmental brain malformations, progressive white-matter degeneration, cerebral calcification, severe neurologic disability, and osteosclerotic skeletal abnormalities. The largest disease-specific analysis, published in June 2023, aggregated only 19 patients, so every frequency estimate remains vulnerable to ascertainment bias and incomplete reporting. Seventeen patients were homozygous and two compound heterozygous; most arose in consanguineous families. (dulski2023brainabnormalitiesneurodegeneration pages 1-2, dulski2023brainabnormalitiesneurodegeneration pages 2-5)

The central causal model is failure of CSF1R signaling in mononuclear-phagocyte lineages: deficient microglial development compromises brain development and white-matter homeostasis, while deficient osteoclast differentiation/resorption causes dysosteosclerosis. There is no approved BANDDOS-specific disease-modifying treatment. Hematopoietic stem-cell transplantation (HSCT) and microglial replacement are biologically plausible but remain extrapolations from dominant CSF1R-related leukoencephalopathy and preclinical models, not established BANDDOS therapies. (chadarevian2024therapeuticpotentialof pages 23-24, dulski2023brainabnormalitiesneurodegeneration pages 7-9, dulski2023brainabnormalitiesneurodegeneration pages 2-5)

Table: This table condenses the most actionable disease-characteristic evidence for BANDDOS, emphasizing reported denominators, mechanistic interpretation, and current treatment limitations. It is useful as a compact knowledge-base population aid anchored to the available human and translational evidence.

1. Disease information

Definition. BANDDOS—brain abnormalities, neurodegeneration, and dysosteosclerosis—is a syndromic CSF1R deficiency disorder characterized by congenital brain abnormalities, pediatric leukoencephalopathy/neurodegeneration, and a dysosteosclerosis–Pyle disease skeletal phenotype. It belongs to the CSF1R-related disorder continuum but is genetically and clinically distinguished from usually adult-onset, autosomal-dominant CSF1R-related leukoencephalopathy with axonal spheroids and pigmented glia (CSF1R-ALSP). (dulski2023brainabnormalitiesneurodegeneration pages 7-9, dulski2023brainabnormalitiesneurodegeneration pages 1-2)

Identifiers and terminology. Confirmed identifiers are OMIM/MIM 618476 and EFO:0010268. Open Targets associates EFO:0010268 specifically with CSF1R (Ensembl ENSG00000182578), supported by five evidence records and foundational PubMed records including PMID 30982609 and PMID 30982608. A disease-specific MONDO, Orphanet, MeSH, ICD-10, or ICD-11 code was not established in the retrieved evidence; generic osteopetrosis or leukodystrophy codes should not be treated as exact BANDDOS identifiers. (chitu2022modelingcsf‐1receptor pages 1-2, OpenTargets Search: brain abnormalities, neurodegeneration, and dysosteosclerosis-CSF1R)

Synonyms/alternative framing: BANDDOS; autosomal-recessive CSF1R disorder; biallelic CSF1R-related pediatric leukoencephalopathy; pediatric-onset CSF1R-related disorder; CSF1R-related dysosteosclerosis with neurodegeneration.

Evidence provenance. Available knowledge originates from individual pedigrees, case reports, imaging and one autopsy, subsequently aggregated at disease level. It is not derived from population-scale EHR cohorts. The 2023 review combined 16 previously published patients with three new patients. (dulski2023brainabnormalitiesneurodegeneration pages 1-2)

2. Etiology, risk, and protective factors

Causal factor

The established cause is biallelic germline pathogenic or likely pathogenic variation in CSF1R, encoding colony-stimulating factor-1 receptor, a transmembrane receptor tyrosine kinase activated by CSF1 and IL-34. Pathogenic alleles disrupt the intracellular tyrosine-kinase domain or cause transcript degradation through nonsense-mediated decay. (dulski2023brainabnormalitiesneurodegeneration pages 7-9, dulski2023brainabnormalitiesneurodegeneration pages 1-2)

Risk factors

• Genetic: two pathogenic CSF1R alleles; parental consanguinity increases the probability of homozygosity. Family history compatible with autosomal-recessive inheritance is important.
• Variant severity: truncation/NMD and profound kinase-domain disruption appear associated with early severe disease, although the cohort is too small for a validated genotype–phenotype model. (dulski2023brainabnormalitiesneurodegeneration pages 9-11)
• Environmental, infectious, lifestyle, age, or sex risks: none established. The observed 19-patient sex distribution—10 female, seven male, two unknown—does not establish sex-specific susceptibility. (dulski2023brainabnormalitiesneurodegeneration pages 2-5)

No validated protective variant, modifier gene, protective exposure, or gene–environment interaction has been reported. Apparent phenotypic variability may reflect residual kinase activity, background genetic modifiers, and ascertainment, but these remain hypotheses. Heterozygous relatives in one family carrying c.2498C>T (p.Thr833Met) were clinically unaffected, supporting recessive inheritance rather than a protective effect. (daghagh2022homozygousmutationin pages 1-2, daghagh2022homozygousmutationin pages 2-4)

3. Phenotypes

Reported frequencies use only patients with sufficient documentation; they are not population prevalence estimates.

• Speech disturbance: 13/15 (87%), often dysarthria; progressive and functionally disabling. Suggested HPO: speech abnormality, dysarthria.
• Cognitive decline/impairment: 12/14 (86%); developmental impairment may precede regression. HPO: cognitive impairment, developmental regression.
• Spasticity or rigidity: 12/15 (80%); hyperreflexia 11/14; pathologic reflexes 8/11. HPO: HP:0001257 Spasticity; HP:0001347 Hyperreflexia; pyramidal sign.
• Seizures: 9/16 (56%), generally childhood onset and potentially recurrent. HPO: HP:0001250 Seizure.
• Dysphagia: 9/12 (75%), with aspiration and nutritional implications. HPO: HP:0002015 Dysphagia.
• Developmental delay: 7/14 (50%); infantile hypotonia: 3/11; optic atrophy: 2/7. Suggested HPO: HP:0001263 Global developmental delay; HP:0001252 Hypotonia; HP:0000648 Optic atrophy.
• Dysmorphism: 7/17 (41%).
• Skeletal deformity/dysplasia: 13/17 (76%), spanning dysosteosclerosis and Pyle-like metaphyseal abnormalities; findings may include osteosclerosis, long-bone modeling defects, kyphosis, and optic-canal narrowing. Suggested HPO: HP:0000938 Osteosclerosis, metaphyseal widening, abnormal long-bone morphology, kyphosis. (dulski2023brainabnormalitiesneurodegeneration pages 1-2, dulski2023brainabnormalitiesneurodegeneration pages 7-9, chitu2022modelingcsf‐1receptor pages 1-2)

Imaging phenotypes: white-matter abnormalities 19/19; intracranial calcifications 15/18; corpus-callosum agenesis/abnormality 12/16; ventriculomegaly 13/19; Dandy–Walker complex 7/19; cortical abnormalities 4/10. Calcifications can be congenital and have a characteristic “stepping-stone” distribution. Suggested HPO: abnormal cerebral white-matter morphology, HP:0001272 cerebral calcification, HP:0007256 agenesis of corpus callosum, HP:0002119 ventriculomegaly, Dandy–Walker malformation. (dulski2023brainabnormalitiesneurodegeneration pages 1-2, dulski2023brainabnormalitiesneurodegeneration pages 5-6)

Quality of life. No BANDDOS-specific EQ-5D, SF-36, PROMIS, or caregiver-burden study exists. Severe motor impairment, cognitive and speech loss, seizures, dysphagia, visual impairment, skeletal deformity, and respiratory aspiration collectively imply profound dependence and caregiver burden. This is clinical inference rather than instrument-derived evidence. (dulski2023brainabnormalitiesneurodegeneration pages 7-9)

4. Genetic and molecular information

Causal gene: CSF1R; approved name colony stimulating factor 1 receptor; Ensembl ENSG00000182578. The protein has 972 amino acids and includes extracellular immunoglobulin-like domains, a transmembrane segment, juxtamembrane regulatory region, and intracellular split tyrosine-kinase domain. (dulski2023brainabnormalitiesneurodegeneration pages 7-9, OpenTargets Search: brain abnormalities, neurodegeneration, and dysosteosclerosis-CSF1R)

In the 19-patient 2023 series, 11 distinct variants comprised three splice variants, three missense variants, two nonsense variants, two intronic variants, and one in-frame deletion. Nine of 11 affected the kinase domain; the remainder caused or were predicted to cause NMD. Classifications ranged from likely pathogenic to pathogenic under ACMG/AMP interpretation. All are germline; no somatic BANDDOS mechanism is known. (dulski2023brainabnormalitiesneurodegeneration pages 9-11, dulski2023brainabnormalitiesneurodegeneration pages 1-2)

Examples include:

• c.2498C>T (p.Thr833Met), homozygous, exon 19/kinase domain. It was predicted damaging, highly conserved, and segregated with disease, but lacked direct in-vitro functional validation; consequently, computational evidence should not be overstated. (daghagh2022homozygousmutationin pages 2-4, daghagh2022homozygousmutationin pages 4-6)
• c.1754G>T (p.Gly585Val), homozygous in three Brazilian siblings and predicted pathogenic. (dulski2023brainabnormalitiesneurodegeneration pages 2-5)

Population allele frequencies were not reliably reported in the retrieved evidence. These causal alleles are expected to be very rare, but a numerical gnomAD frequency should be added only after transcript- and genome-build-specific database verification. No established modifier genes, epigenetic signature, recurrent chromosomal abnormality, or structural-variant mechanism is known.

5. Environmental information

BANDDOS is a monogenic developmental disorder. No toxin, radiation, pollution, occupational exposure, diet, smoking, alcohol use, exercise pattern, or infectious agent has been shown to cause or modify it. Infectious and aspiration complications may worsen clinical outcome but are downstream complications, not etiology. Consequently, CHEBI annotations are not appropriate for a causal exposure at present.

6. Mechanism and pathophysiology

Causal chain

1. Upstream genetic lesion: biallelic kinase-domain disruption, abnormal splicing, truncation, or NMD reduces functional CSF1R.
2. Signaling failure: inadequate CSF1/IL-34-induced receptor autophosphorylation impairs survival, proliferation, differentiation, and function of mononuclear-phagocyte lineages.
3. Microglial deficiency: failed embryonic/postnatal microglial development removes critical support for CNS morphogenesis, myelin/axon homeostasis, phagocytosis, and tissue repair.
4. CNS consequences: congenital malformations, ventriculomegaly, callosal agenesis and Dandy–Walker complex are followed or accompanied by white-matter atrophy, axonal spheroids, gliosis, calcification, spasticity, seizures, cognitive decline, and dysphagia.
5. Osteoclast deficiency/dysfunction: impaired differentiation and survival of bone-resorbing osteoclasts causes defective remodeling, osteosclerosis, abnormal metaphyseal modeling, skeletal deformity, and possible foraminal narrowing. (daghagh2022homozygousmutationin pages 6-7, dulski2023brainabnormalitiesneurodegeneration pages 7-9, chitu2022modelingcsf‐1receptor pages 1-2)

A single human autopsy showed near-complete/complete absence of microglia, absent corpus callosum, severe white-matter atrophy with axonal spheroids, gliosis, and numerous dystrophic calcifications—direct human tissue support for the microglial-deficiency model. (dulski2023brainabnormalitiesneurodegeneration pages 1-2, dulski2023brainabnormalitiesneurodegeneration pages 9-11)

Suggested annotations include GO: receptor tyrosine-kinase signaling, macrophage differentiation, microglial-cell development, osteoclast differentiation, bone resorption, CNS development, phagocytosis, myelination, and axon maintenance; CL: microglial cell, osteoclast, monocyte/macrophage progenitor, astrocyte, oligodendrocyte; GO cellular components: plasma membrane, receptor complex, cytoplasmic kinase domain, axon, and myelin sheath.

No BANDDOS-specific human transcriptomic, proteomic, metabolomic, lipidomic, spatial-transcriptomic, single-cell, or epigenomic signature has been established. Work in broader CSF1R disease suggests altered microglial and compensatory astrocytic states, but this should not be represented as directly measured BANDDOS molecular profiling. (chadarevian2024therapeuticpotentialof pages 23-24)

7. Anatomical structures affected

Primary systems: CNS and skeleton. CNS sites include bilateral cerebral/periventricular white matter, corpus callosum, corticospinal/pyramidal tracts, cerebral cortex, basal ganglia, cerebellum and posterior fossa, ventricles, and optic nerves. Skeletal involvement includes long bones, metaphyses, vertebral column, ribs/chest, skull, and optic canals. Involvement is generally bilateral/systemic rather than unilateral. (daghagh2022homozygousmutationin pages 1-2, dulski2023brainabnormalitiesneurodegeneration pages 7-9)

Suggested UBERON concepts: brain, cerebral white matter, corpus callosum, cerebral cortex, basal ganglion, cerebellum, ventricular system of brain, optic nerve, bone tissue, long bone, metaphysis, vertebral column, skull. At tissue/cell level, nervous tissue, white matter, myelinated axon, microglia, astrocytes, oligodendrocytes, bone, and osteoclasts are most relevant.

8. Temporal development

Onset was perinatal in five patients, infancy in two, childhood in five, and adulthood in one among those with adequate data. Early disease may present with congenital hydrocephalus/ventriculomegaly, hypotonia, seizures, or developmental delay; later-onset cases can first develop normally and then lose language, cognition, and motor function. (dulski2023brainabnormalitiesneurodegeneration pages 1-2, chitu2022modelingcsf‐1receptor pages 1-2)

The usual course is chronic, progressive, lifelong, and often severe. A representative p.Thr833Met patient had visual problems at one month, progressive cognitive decline, gait disturbance and seizures after age two, and died at nine years. No spontaneous remission is documented. Because microglia participate in prenatal brain development, the prenatal/perinatal period is likely a critical mechanistic window; whether intervention after congenital malformation can reverse deficits is unknown. (daghagh2022homozygousmutationin pages 1-2)

9. Inheritance and population

Inheritance is autosomal recessive. In the 2023 compilation, 17/19 patients were homozygous and 2/19 compound heterozygous. Consanguinity was common. Reported ancestries/geographies included Chaldean, Brazilian, Arab, Turkish, Indian, Japanese, and Native American families, indicating worldwide occurrence rather than a single endemic population. No validated founder allele, carrier frequency, prevalence per 100,000, annual incidence, penetrance estimate, anticipation, or germline-mosaicism rate is available. (dulski2023brainabnormalitiesneurodegeneration pages 2-5)

Observed sex counts—10 female, seven male, two unknown—are compatible with autosomal inheritance and do not demonstrate sex bias. For two carrier parents, the conventional per-pregnancy risks are 25% affected, 50% heterozygous carrier, and 25% unaffected/non-carrier, assuming both parental alleles are pathogenic and no unusual reproductive mechanism.

10. Diagnostics

Recommended approach

1. Recognize the combination of early developmental regression/leukoencephalopathy, calcification or congenital brain malformation, and osteosclerotic/modeling abnormalities.
2. Obtain brain MRI, including T1/T2/FLAIR and diffusion sequences, to define white-matter loss, callosal abnormalities, ventriculomegaly, posterior-fossa and cortical malformations.
3. Obtain noncontrast head CT, which is more sensitive for calcification.
4. Perform a skeletal survey or targeted radiographs/CT where clinically indicated.
5. Confirm biallelic CSF1R variants by sequencing and parental segregation. WES/WGS is appropriate when phenotype is atypical; a leukodystrophy, cerebral-calcification, osteopetrosis, or skeletal-dysplasia panel should include CSF1R.
6. Assess swallowing/aspiration, EEG for seizures, vision/optic nerves, developmental status, mobility, nutrition, respiratory status, and orthopedic complications. (daghagh2022homozygousmutationin pages 1-2, daghagh2022homozygousmutationin pages 2-4)

Targeted NGS identified p.Thr833Met, and chorionic-villus sampling enabled prenatal family testing. CMA, karyotyping, FISH, mitochondrial DNA testing, and repeat-expansion testing are not first-line tests for a classic sequence-level BANDDOS presentation, although WGS can detect copy-number or noncoding alleles missed by routine panels. No validated blood, CSF, proteomic, metabolomic, or liquid-biopsy biomarker exists.

Differential diagnosis: dominant CSF1R-ALSP; Aicardi–Goutières/interferonopathy and congenital-infection mimics of intracranial calcification; osteopetrosis due to TCIRG1, CLCN7, OSTM1, TNFSF11, or TNFRSF11A; SLC29A3-related dysosteosclerosis; Pyle disease; Nasu–Hakola disease (TREM2/TYROBP); and other genetic leukodystrophies. Importantly, “dysosteosclerosis” is genetically heterogeneous and is not synonymous with BANDDOS. (dulski2023brainabnormalitiesneurodegeneration pages 1-2, chitu2022modelingcsf‐1receptor pages 1-2)

11. Outcome and prognosis

At least six deaths were documented among the 19 compiled patients: three in infancy, two in childhood, and one at an unspecified age. This incomplete, heavily censored case series cannot support formal survival curves, life expectancy, or 5-/10-year survival estimates. (dulski2023brainabnormalitiesneurodegeneration pages 1-2, dulski2023brainabnormalitiesneurodegeneration pages 2-5)

Morbidity is often profound: developmental and cognitive disability, progressive speech and motor loss, spasticity, seizures, dysphagia/aspiration, impaired vision, skeletal deformity, and dependence in activities of daily living. Established individual prognostic biomarkers do not exist. Earlier onset, severe congenital malformations, profound microglial deficiency, truncating/NMD alleles, dysphagia, and respiratory complications are plausible adverse indicators, but none has been validated in a sufficiently large cohort.

12. Treatment and current applications

There is no approved or evidence-based BANDDOS-specific pharmacotherapy, gene therapy, RNA therapy, cell therapy, or surgical cure. Clinical care is multidisciplinary and supportive:

• antiseizure medication individualized to seizure type;
• speech/communication, physical and occupational therapy;
• tone management and orthopedic surveillance;
• formal swallowing evaluation, texture modification, aspiration precautions, and enteral feeding when needed;
• respiratory care, vaccination, and prompt infection treatment;
• visual, dental, hearing, nutritional, and developmental support;
• mobility aids, pain control, and palliative-care involvement in severe disease.

Suggested NCIT concepts include Supportive Care, Physical Therapy, Occupational Therapy, Speech Therapy, Anticonvulsant Therapy, Enteral Nutrition, Gastrostomy, and Hematopoietic Stem Cell Transplantation; HSCT must be flagged experimental/extrapolative for BANDDOS.

The 2023 expert review concluded that BANDDOS and CSF1R-ALSP form a continuum and proposed a possible therapeutic window for adapting ALSP-directed therapy. However, evidence that allogeneic HSCT can stabilize dominant CSF1R-ALSP does not demonstrate efficacy in children with congenital microglial absence and established malformations. Risks include conditioning toxicity, infection, graft-versus-host disease, and uncertain donor-cell entry/repopulation of the developing brain. No relevant BANDDOS-specific interventional trial was identified. (dulski2023brainabnormalitiesneurodegeneration pages 1-2, dulski2023brainabnormalitiesneurodegeneration pages 2-5)

A major 2024 translational development was human microglia transplantation in a chimeric CSF1R-related leukoencephalopathy model. This supports cell replacement as a research direction, not current clinical care for BANDDOS. (chadarevian2024therapeuticpotentialof pages 23-24)

13. Prevention

There is no lifestyle, vaccine, medication, or environmental intervention that prevents the molecular disease. Primary reproductive prevention consists of genetic counseling, carrier testing of relatives, partner testing where appropriate, preimplantation genetic testing for monogenic disease, and prenatal diagnosis once familial variants are known. One family underwent chorionic-villus testing of a fetus. (daghagh2022homozygousmutationin pages 2-4)

Secondary prevention means early molecular diagnosis and surveillance for seizures, aspiration, visual compromise, respiratory disease, and skeletal complications. Population newborn screening is not established. Tertiary prevention includes aspiration precautions, nutrition support, contracture prevention, rehabilitation, fracture/orthopedic management, and infection prevention. Cascade testing is appropriate for adult relatives, with careful counseling that heterozygous CSF1R variant interpretation may depend on the specific allele and its known dominant versus recessive effect.

14. Other species and natural disease

No naturally occurring veterinary disease precisely equivalent to human BANDDOS was established in the retrieved literature, and there is no zoonotic or cross-species transmission. CSF1R function is evolutionarily conserved in mammals and fish. Mouse (NCBI Taxon 10090), rat (10116), and zebrafish (7955) ortholog studies reproduce central elements of CSF1R deficiency—microglial/macrophage depletion, osteoclast defects, osteopetrosis, growth/developmental abnormalities, and brain pathology. Species differ in viability, paralog structure, genetic-background sensitivity, and degree of skeletal/CNS disease, limiting direct phenotypic equivalence. (chadarevian2024therapeuticpotentialof pages 23-24, chitu2022modelingcsf‐1receptor pages 1-2)

15. Model organisms and advanced research platforms

Mouse and rat: Csf1r null, kinase-dead, hypomorphic, and regulatory-element mutant models demonstrate dependence of tissue macrophages, microglia, and osteoclasts on CSF1R. Phenotypic severity is strongly background-dependent, an important limitation and a potential clue to human modifiers. (chitu2022modelingcsf‐1receptor pages 1-2)

Zebrafish: csf1r-deficient models permit live developmental analysis. They show arrested macrophage development, systemic macrophage/microglial depletion, and altered astrocytic responses. Zebrafish possess duplicated receptor genes, so dosage and paralog compensation complicate translation to humans. (chadarevian2024therapeuticpotentialof pages 23-24)

Human cellular systems: iPSC-derived microglia, CRISPR-edited isogenic lines, cerebral organoids, and microglia–organoid coculture are relevant for testing kinase activity, survival, migration, phagocytosis, inflammatory signaling, myelin handling, and cell-replacement strategies. As of 2024, advanced iPSC work principally modeled dominant ALSP rather than biallelic BANDDOS; a dedicated patient-derived BANDDOS isogenic model remains a major unmet need.

Recent authoritative synthesis and evidence limitations

The pivotal recent source is Dulski et al., Orphanet Journal of Rare Diseases, published June 2023, DOI: 10.1186/s13023-023-02772-9. Its abstract states: “We identified 19 patients with BANDDOS” and concludes that the disorder has “a devastating course with congenital brain abnormalities, developmental delay, neurological deficits, osteopetrosis, and dysmorphic features.” (dulski2023brainabnormalitiesneurodegeneration pages 1-2)

The 2022 case report by Daghagh et al., DOI: 10.34172/bi.2022.23528, reported a novel homozygous p.Thr833Met allele; its abstract explicitly notes that heterozygous relatives had no disease manifestations and that the allele lies in the functionally essential protein-tyrosine-kinase domain. (daghagh2022homozygousmutationin pages 1-2)

The 2024 transplantation study, DOI: 10.1016/j.neuron.2024.05.023, provides high-quality preclinical support for human microglial replacement in CSF1R-related disease, but not clinical BANDDOS efficacy. (chadarevian2024therapeuticpotentialof pages 23-24)

Overall certainty is high for the gene–disease relationship, recessive inheritance, microglial/osteoclast mechanism, and core imaging phenotype; moderate to low for individual phenotype frequencies and genotype–phenotype associations; and very low/absent for epidemiology, quality-of-life metrics, validated biomarkers, natural-history staging, and treatment efficacy. These gaps should be represented explicitly in a disease knowledge base rather than filled by extrapolation.

References

1. (dulski2023brainabnormalitiesneurodegeneration pages 1-2): Jarosław Dulski, Josiane Souza, Mara Lúcia Santos, and Zbigniew K. Wszolek. Brain abnormalities, neurodegeneration, and dysosteosclerosis (banddos): new cases, systematic literature review, and associations with csf1r-alsp. Orphanet Journal of Rare Diseases, Jun 2023. URL: https://doi.org/10.1186/s13023-023-02772-9, doi:10.1186/s13023-023-02772-9. This article has 26 citations and is from a peer-reviewed journal.

2. (dulski2023brainabnormalitiesneurodegeneration pages 2-5): Jarosław Dulski, Josiane Souza, Mara Lúcia Santos, and Zbigniew K. Wszolek. Brain abnormalities, neurodegeneration, and dysosteosclerosis (banddos): new cases, systematic literature review, and associations with csf1r-alsp. Orphanet Journal of Rare Diseases, Jun 2023. URL: https://doi.org/10.1186/s13023-023-02772-9, doi:10.1186/s13023-023-02772-9. This article has 26 citations and is from a peer-reviewed journal.

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4. (dulski2023brainabnormalitiesneurodegeneration pages 7-9): Jarosław Dulski, Josiane Souza, Mara Lúcia Santos, and Zbigniew K. Wszolek. Brain abnormalities, neurodegeneration, and dysosteosclerosis (banddos): new cases, systematic literature review, and associations with csf1r-alsp. Orphanet Journal of Rare Diseases, Jun 2023. URL: https://doi.org/10.1186/s13023-023-02772-9, doi:10.1186/s13023-023-02772-9. This article has 26 citations and is from a peer-reviewed journal.

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7. (dulski2023brainabnormalitiesneurodegeneration pages 9-11): Jarosław Dulski, Josiane Souza, Mara Lúcia Santos, and Zbigniew K. Wszolek. Brain abnormalities, neurodegeneration, and dysosteosclerosis (banddos): new cases, systematic literature review, and associations with csf1r-alsp. Orphanet Journal of Rare Diseases, Jun 2023. URL: https://doi.org/10.1186/s13023-023-02772-9, doi:10.1186/s13023-023-02772-9. This article has 26 citations and is from a peer-reviewed journal.

8. (dulski2023brainabnormalitiesneurodegeneration pages 5-6): Jarosław Dulski, Josiane Souza, Mara Lúcia Santos, and Zbigniew K. Wszolek. Brain abnormalities, neurodegeneration, and dysosteosclerosis (banddos): new cases, systematic literature review, and associations with csf1r-alsp. Orphanet Journal of Rare Diseases, Jun 2023. URL: https://doi.org/10.1186/s13023-023-02772-9, doi:10.1186/s13023-023-02772-9. This article has 26 citations and is from a peer-reviewed journal.

9. (daghagh2022homozygousmutationin pages 6-7): Hossein Daghagh, Haniyeh Rahbar Kafshboran, Yousef Daneshmandpour, Maryam Nasiri Aghdam, Shahrzad Talebian, Jafar Nouri Nojadeh, Hamid Hamzeiy, Saskia Biskup, and Ebrahim Sakhinia. Homozygous mutation in csf1r causes brain abnormalities, neurodegeneration, and dysosteosclerosis (banddos). BioImpacts : BI, 13:183-190, Nov 2022. URL: https://doi.org/10.34172/bi.2022.23528, doi:10.34172/bi.2022.23528. This article has 7 citations.

10. (daghagh2022homozygousmutationin pages 2-4): Hossein Daghagh, Haniyeh Rahbar Kafshboran, Yousef Daneshmandpour, Maryam Nasiri Aghdam, Shahrzad Talebian, Jafar Nouri Nojadeh, Hamid Hamzeiy, Saskia Biskup, and Ebrahim Sakhinia. Homozygous mutation in csf1r causes brain abnormalities, neurodegeneration, and dysosteosclerosis (banddos). BioImpacts : BI, 13:183-190, Nov 2022. URL: https://doi.org/10.34172/bi.2022.23528, doi:10.34172/bi.2022.23528. This article has 7 citations.

11. (daghagh2022homozygousmutationin pages 1-2): Hossein Daghagh, Haniyeh Rahbar Kafshboran, Yousef Daneshmandpour, Maryam Nasiri Aghdam, Shahrzad Talebian, Jafar Nouri Nojadeh, Hamid Hamzeiy, Saskia Biskup, and Ebrahim Sakhinia. Homozygous mutation in csf1r causes brain abnormalities, neurodegeneration, and dysosteosclerosis (banddos). BioImpacts : BI, 13:183-190, Nov 2022. URL: https://doi.org/10.34172/bi.2022.23528, doi:10.34172/bi.2022.23528. This article has 7 citations.

12. (daghagh2022homozygousmutationin pages 4-6): Hossein Daghagh, Haniyeh Rahbar Kafshboran, Yousef Daneshmandpour, Maryam Nasiri Aghdam, Shahrzad Talebian, Jafar Nouri Nojadeh, Hamid Hamzeiy, Saskia Biskup, and Ebrahim Sakhinia. Homozygous mutation in csf1r causes brain abnormalities, neurodegeneration, and dysosteosclerosis (banddos). BioImpacts : BI, 13:183-190, Nov 2022. URL: https://doi.org/10.34172/bi.2022.23528, doi:10.34172/bi.2022.23528. This article has 7 citations.

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