Capillary Malformation–Arteriovenous Malformation (CM‑AVM) Syndrome — Disease Characteristics Research Report

1. Disease Information

Concise overview (current understanding)

Capillary malformation–arteriovenous malformation (CM‑AVM) syndrome is a rare, autosomal dominant vascular malformation disorder characterized by multifocal cutaneous capillary malformations (CMs) and an increased risk of fast‑flow vascular lesions, especially arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs). (palermo2025capillarymalformation–arteriovenousmalformation pages 1-2, brix2022capillarymalformationarteriovenousmalformation pages 1-2)

A recent systematic review abstract summarizes the canonical definition: CM‑AVM is “characterized by cutaneous capillary malformations and fast‑flow vascular lesions, including arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs).” (Palermo et al., 2025‑12; https://doi.org/10.1007/s00381-025-07089-5) (palermo2025capillarymalformation–arteriovenousmalformation pages 1-2)

Key identifiers (retrieved in this run)

Table: This table compiles key disease identifiers and commonly used synonyms for capillary malformation-arteriovenous malformation syndrome from the available evidence. It is useful for harmonizing nomenclature across knowledge base entries and linked resources.

Notes on missing identifiers: ICD‑10/ICD‑11 and MeSH terms were not retrieved from the available full texts in this tool run; MONDO and OMIM/Orphanet identifiers were recovered (artifact above). (palermo2025capillarymalformation–arteriovenousmalformation pages 1-2, wooderchakdonahue2018expandingtheclinical pages 1-2, revencu2020rasa1mosaicmutations pages 1-2)

Synonyms and alternative names

Commonly used synonyms include CM‑AVM, CMAVM, capillary malformation–AVM syndrome, and genetic subtypes CM‑AVM1 (RASA1) and CM‑AVM2 (EPHB4). (brix2022capillarymalformationarteriovenousmalformation pages 1-2, wooderchakdonahue2018expandingtheclinical pages 1-2, zhao2023mutationofkey pages 1-2)

Evidence source type

Most knowledge about CM‑AVM comes from aggregated disease‑level resources (systematic reviews and cohorts) plus case series and family studies; some mechanistic understanding derives from mouse and zebrafish models and endothelial cell studies. (palermo2025capillarymalformation–arteriovenousmalformation pages 2-4, zhao2023mutationofkey pages 1-2, zhao2023geneticdysregulationof pages 35-39)

2. Etiology

Disease causal factors

CM‑AVM is primarily a Mendelian genetic disorder caused by pathogenic variants in RASA1 (CM‑AVM1) and EPHB4 (CM‑AVM2), which disrupt endothelial signaling that normally restrains RAS‑MAPK/ERK activity. (palermo2025capillarymalformation–arteriovenousmalformation pages 1-2, chen2023ephb4rasa1mediatednegativeregulation pages 2-4, morin2025vascularmalformationsfrom pages 5-6)

Risk factors

• Genetic: Heterozygous pathogenic variants in RASA1 or EPHB4; de novo variants occur (e.g., ~26.5% likely de novo in a large RASA1 cohort). (revencu2013rasa1mutationsand pages 7-9)
• Somatic/mosaic contributions: Low‑level post‑zygotic mosaic RASA1 variants can cause classical CM‑AVM; mosaic allele fractions as low as a few percent were detected, and gonosomal mosaicism can confer recurrence risk. (revencu2020rasa1mosaicmutations pages 1-2)

Protective factors

No disease‑specific protective genetic or environmental factors were identified in the retrieved sources.

Gene–environment interactions

No specific gene–environment interactions were identified in the retrieved sources.

3. Phenotypes

Core phenotype spectrum with HPO suggestions

Table: This table summarizes the core clinical phenotype spectrum of capillary malformation–arteriovenous malformation syndrome, including quantitative frequencies where available and suggested HPO mappings. It is useful for disease knowledge-base curation, phenotype annotation, and genotype-phenotype interpretation.

High‑value quantitative phenotype statistics (recent aggregated sources)

• In a 2025 systematic review of 148 genetically confirmed CM‑AVM patients with cerebrovascular manifestations, pooled lesion frequencies were: pial AVF 43.3% (63/148), AVM 36.0% (54/148), vein of Galen malformation 17.3% (26/148); nearly 24.7% underwent endovascular embolization and 5.3% underwent surgery. (Palermo et al., 2025‑12; https://doi.org/10.1007/s00381-025-07089-5) (palermo2025capillarymalformation–arteriovenousmalformation pages 2-4, palermo2025capillarymalformation–arteriovenousmalformation pages 7-9)
• For CM‑AVM2 (EPHB4) across a 2022 literature review of 127 EPHB4‑confirmed patients: multiple CMs 89.8%, AVM/AVF 18.1%, telangiectasia 22%, Bier spots 15.7%, and CNS fast‑flow lesions 3.9% (including vein‑of‑Galen malformations and spinal AVMs). (Brix et al., 2022‑03; https://doi.org/10.2340/actadv.v102.1126) (brix2022capillarymalformationarteriovenousmalformation pages 1-2, brix2022capillarymalformationarteriovenousmalformation pages 4-5)
• For RASA1 CM‑AVM across combined cohorts: capillary malformations in 97%, AVM/AVF in 23%, intracranial lesions in 10%, and Parkes Weber syndrome in 8%. (Revencu et al., 2013‑12; https://doi.org/10.1002/humu.22431) (revencu2013rasa1mutationsand pages 1-2)

Prenatal/neonatal manifestations (recent, 2023)

Coccia et al. (Genes, 2023‑02; https://doi.org/10.3390/genes14030549) emphasize that prenatal presentations exist and can be severe. Their abstract states: “Pathogenic variants in RASA1 are typically associated with a clinical condition called ‘capillary malformation‑arteriovenous malformation’ (CM‑AVM) syndrome, an autosomal dominant genetic disease characterized by a broad phenotypic variability, even within families.” (coccia2023prenatalclinicalfindings pages 9-11)

In the same abstract: “Although CM‑AVM syndrome has been widely described in the literature, only 21 cases with prenatal onset of clinical features have been reported thus far.” and prenatal warning signs include hydrops‑type presentations; mortality among reported prenatal‑onset cases was ~30% (6/21). (coccia2023prenatalclinicalfindings pages 9-11)

4. Genetic / Molecular Information

Causal genes

• RASA1 (RAS p21 protein activator 1) — CM‑AVM1 (OMIM 608354). (wooderchakdonahue2018expandingtheclinical pages 1-2, revencu2020rasa1mosaicmutations pages 1-2)
• EPHB4 (EPH receptor B4) — CM‑AVM2 (OMIM 618196). (zhao2023mutationofkey pages 1-2)

Variant types, mosaicism, and “second hit” concept

Table: This table summarizes the main genetic subtypes and mechanisms underlying capillary malformation–arteriovenous malformation syndrome, focusing on RASA1 and EPHB4. It integrates cohort data, mosaic/second-hit evidence, and recent mechanistic studies to support genotype-to-pathway interpretation.

Key primary‑literature findings: * High penetrance and de novo events: Revencu et al. report penetrance ~98.5% and ~26.5% de novo RASA1 variants in their cohort; they also report strong variability and support for second‑hit biology. (revencu2013rasa1mutationsand pages 7-9) * Mosaicism: Revencu et al. (J Med Genet, 2020‑07) report mosaic RASA1 allele fractions in blood/tissue and conclude: “This study shows that RASA1 mosaic mutations can cause capillary malformation‑arteriovenous malformation.” (https://doi.org/10.1136/jmedgenet-2019-106024) (revencu2020rasa1mosaicmutations pages 1-2) * Human genetics + systems biology (2023): Zhao et al. (Nat Commun, 2023‑11; https://doi.org/10.1038/s41467-023-43062-z) found a genome‑wide significant burden of de novo loss‑of‑function RASA1 and enrichment of damaging EPHB4 variants in vein‑of‑Galen malformations, and used endothelial‑focused analyses and animal models to localize mechanism to developing endothelial cells. (zhao2023mutationofkey pages 1-2)

Allele frequency in population databases

Specific gnomAD allele frequencies for CM‑AVM pathogenic variants were not available in the retrieved excerpts.

Modifier genes / epigenetics / chromosomal abnormalities

No definitive modifier genes, epigenetic signatures specific to CM‑AVM, or recurrent chromosomal abnormalities were identified in the retrieved CM‑AVM‑focused evidence.

5. Environmental Information

No specific non‑genetic environmental, lifestyle, or infectious causal contributors were identified in the retrieved sources; CM‑AVM is predominantly a genetic developmental vascular disorder in the available literature. (palermo2025capillarymalformation–arteriovenousmalformation pages 1-2, revencu2013rasa1mutationsand pages 1-2)

6. Mechanism / Pathophysiology

Upstream → downstream causal chain (current model)

1. Germline heterozygous loss‑of‑function in RASA1 or EPHB4 establishes a susceptibility state in endothelial development. (morin2025vascularmalformationsfrom pages 5-6)
2. In some lesions, additional mosaic/second‑hit events or focal endothelial dysfunction further reduce pathway restraint, resulting in localized malformations (multifocality). (revencu2020rasa1mosaicmutations pages 1-2, revencu2013rasa1mutationsand pages 7-9)
3. Loss of EPHB4–RASA1 negative regulation increases RAS‑MAPK/ERK signaling, altering angiogenic remodeling, endothelial survival/ECM handling, and arteriovenous specification, producing fast‑flow shunts (AVMs/AVFs) and related lesions. (chen2023ephb4rasa1mediatednegativeregulation pages 2-4, zhao2023geneticdysregulationof pages 12-14)

Key pathways

• RAS‑MAPK/ERK signaling: CM‑AVM is described as resulting from RASA1/EPHB4 mutations “leading to aberrant Ras‑MAPK signaling.” (Palermo et al., 2025‑12) (palermo2025capillarymalformation–arteriovenousmalformation pages 1-2)
• EPHB4–RASA1 axis as Ras restraint in endothelium: experimental work reviewed in 2023 indicates EPHB4 inhibits endothelial Ras‑MAPK via a RASA1‑dependent mechanism and that disruption affects vascular remodeling and extracellular matrix handling (collagen IV export). (chen2023ephb4rasa1mediatednegativeregulation pages 2-4, chen2023ephb4rasa1mediatednegativeregulation pages 7-9)

Cell types (CL term suggestions)

• Endothelial cell (CL:0000115) — primary implicated cell type; single‑cell integration in Zhao et al. localizes disease to developing endothelial cells. (zhao2023mutationofkey pages 1-2, zhao2023geneticdysregulationof pages 12-14)
• Venous endothelial cell (suggested; EphB4 is a venous EC marker) and tip cell progeny in retinal angiogenesis models. (stewen2024ephephrinsignalingcouples pages 1-2)

GO biological process term suggestions

• angiogenesis (GO:0001525)
• blood vessel morphogenesis (GO:0048514)
• artery development / arteriovenous specification (suggested mapping; supported by EphB4/ephrin signaling models) (stewen2024ephephrinsignalingcouples pages 1-2)
• negative regulation of Ras protein signal transduction (GO:0046579) (supported conceptually by RASA1 function) (chen2023ephb4rasa1mediatednegativeregulation pages 2-4)

Anatomical loci and tissue damage mechanisms

Mechanistic and clinical data highlight cerebrovascular and cutaneous vascular beds; severe lesions can cause heart failure, hemorrhage, and neurologic injury. (palermo2025capillarymalformation–arteriovenousmalformation pages 11-13, wooderchakdonahue2018expandingtheclinical pages 1-2)

7. Anatomical Structures Affected

Organ/system level (UBERON suggestions)

• Skin (UBERON:0002097): multifocal capillary malformations. (brix2022capillarymalformationarteriovenousmalformation pages 1-2, revencu2013rasa1mutationsand pages 1-2)
• Brain / intracranial vasculature (UBERON:0000955; cerebrovasculature): pial AVF, AVM, vein‑of‑Galen malformations. (palermo2025capillarymalformation–arteriovenousmalformation pages 2-4)
• Spinal cord / spinal vasculature (UBERON:0002240): spinal AVMs reported. (brix2022capillarymalformationarteriovenousmalformation pages 4-5)
• Extremities (limb) (UBERON:0002101): Parkes Weber syndrome (overgrowth + AV shunting). (revencu2013rasa1mutationsand pages 1-2)

Subcellular/localization notes

No CM‑AVM‑specific subcellular compartment pathology was explicitly described in the retrieved excerpts.

8. Temporal Development

Onset

• Cutaneous lesions are often present at birth or in early childhood. (palermo2025capillarymalformation–arteriovenousmalformation pages 1-2, brix2022capillarymalformationarteriovenousmalformation pages 1-2)
• Severe prenatal presentations exist (hydrops‑type findings, polyhydramnios). (coccia2023prenatalclinicalfindings pages 9-11)

Progression/course

Course is variable; morbidity is driven by high‑flow lesion location and hemodynamic effects. There is no uniform staging system described in the retrieved sources.

9. Inheritance and Population

Inheritance pattern

CM‑AVM is autosomal dominant with high but not necessarily complete penetrance and variable expressivity. (palermo2025capillarymalformation–arteriovenousmalformation pages 1-2, brix2022capillarymalformationarteriovenousmalformation pages 1-2, revencu2013rasa1mutationsand pages 7-9)

Penetrance/expressivity

• RASA1 cohort penetrance reported as 98.5% with substantial intra‑ and interfamilial variability. (revencu2013rasa1mutationsand pages 7-9)
• Mosaic cases can transmit to offspring (germline involvement). (revencu2020rasa1mosaicmutations pages 1-2)

Epidemiology

Reliable prevalence/incidence estimates were not present in the retrieved excerpts; the condition is consistently described as rare. (palermo2025capillarymalformation–arteriovenousmalformation pages 1-2)

10. Diagnostics

Clinical suspicion

Suspicion is raised by multiple small capillary malformations, especially with pale halos, and by personal/family history of fast‑flow lesions. (brix2022capillarymalformationarteriovenousmalformation pages 1-2, wooderchakdonahue2018expandingtheclinical pages 1-2)

Genetic testing (real‑world implementation)

• RASA1 and EPHB4 are central diagnostic genes and are commonly included in NGS vascular anomaly panels. (palermo2025capillarymalformation–arteriovenousmalformation pages 11-13, revencu2020rasa1mosaicmutations pages 1-2)
• High‑depth sequencing may be needed when blood testing is negative, as mosaicism can explain apparently sporadic presentations; Revencu et al. recommend highly sensitive sequencing approaches in such settings. (revencu2020rasa1mosaicmutations pages 1-2)
• Copy‑number analysis matters for RASA1: a clinical series found multi‑exon deletions (8.3%) among function‑affecting RASA1 variants, supporting deletion/duplication testing in workflows. (wooderchakdonahue2018expandingtheclinical pages 10-11)

Imaging and screening/surveillance

• CM‑AVM can be confused with HHT; genetic testing and cerebrovascular screening are emphasized to prevent missed intracranial lesions. (palermo2025capillarymalformation–arteriovenousmalformation pages 1-2, palermo2025capillarymalformation–arteriovenousmalformation pages 13-14)
• Palermo et al. stress that “regular imaging and clinical evaluation” are key for early lesion detection and to prevent severe neurologic complications. (palermo2025capillarymalformation–arteriovenousmalformation pages 1-2)
• A pediatric neurovascular cohort noted lack of consensus on intervals; their clinical approach was brain and spine imaging at diagnosis, with repeat imaging before puberty and after puberty depending on circumstances. (engel2023prevalenceandpredictors pages 13-17)

Differential diagnosis

Important differentials include: * Hereditary hemorrhagic telangiectasia (HHT) (ENG/ACVRL1/SMAD4/GDF2), because epistaxis/telangiectasia can occur in CM‑AVM2 and some RASA1 cases, causing misclassification. (brix2022capillarymalformationarteriovenousmalformation pages 2-4, palermo2025capillarymalformation–arteriovenousmalformation pages 11-13) * Sturge–Weber syndrome and Klippel–Trenaunay syndrome in the dermatologic differential of capillary malformations. (brix2022capillarymalformationarteriovenousmalformation pages 2-4)

11. Outcome / Prognosis

Morbidity

Morbidity is driven by fast‑flow shunts (CNS/spine/face/extremity) with risks including hemorrhage, seizures, and high‑output cardiac failure. (wooderchakdonahue2018expandingtheclinical pages 1-2, palermo2025capillarymalformation–arteriovenousmalformation pages 11-13)

Outcome statistics

• In prenatal‑onset RASA1 CM‑AVM cases reviewed by Coccia et al., death occurred in 30% (6/21); however, they note “generally a good long‑term prognosis” overall while warning that unrecognized deep malformations can be fatal. (coccia2023prenatalclinicalfindings pages 9-11)
• In the cerebrovascular systematic review cohort, ~25% required embolization and ~5% surgery, indicating clinically significant lesion burden in screened/ascertained cases. (palermo2025capillarymalformation–arteriovenousmalformation pages 7-9)

12. Treatment

Standard and interventional management (current practice)

CM‑AVM management is typically multidisciplinary and focused on detection and treatment of treatable high‑flow lesions (endovascular embolization and sometimes surgery). (palermo2025capillarymalformation–arteriovenousmalformation pages 11-13, palermo2025capillarymalformation–arteriovenousmalformation pages 7-9)

MAXO suggestions (non‑exhaustive): * Endovascular embolization (MAXO term suggestion: endovascular embolization procedure) * Surgical resection of vascular malformation (MAXO suggestion: surgical excision) * Genetic counseling (MAXO suggestion: genetic counseling) * Surveillance imaging (MAXO suggestion: diagnostic imaging procedure)

Targeted/medical therapies (emerging; 2024+ reviews)

Recent vascular anomalies reviews emphasize the shift toward theragnostic targeted therapy, repurposing oncology/transplant drugs: * Seront et al. (ASH Hematology, 2024‑12; https://doi.org/10.1182/hematology.2024000598) highlight MEK inhibition and mTOR inhibition as precision approaches in vascular malformations; they describe clinical benefit signals with trametinib in AVM cohorts and symptom control with sirolimus in some vascular anomalies contexts. (seront2024molecularlandscapeand pages 6-7) * Morin et al. (EMBO Mol Med, 2025‑11; https://doi.org/10.1038/s44321-025-00344-x) explicitly lists CM‑AVM (RASA1/EPHB4) among syndromes and notes that MAPK inhibitors (e.g., trametinib) and mTOR/PI3K inhibitors (e.g., sirolimus, alpelisib) are being applied across vascular malformations with genotype–phenotype logic. (morin2025vascularmalformationsfrom pages 3-5, morin2025vascularmalformationsfrom pages 12-13)

Clinical trials (real‑world implementations; ClinicalTrials.gov)

• Trametinib for complicated extracranial AVM: NCT04258046 (Stanford; Phase 2; status COMPLETED; start 2020‑12‑01; primary completion 2026‑02‑02). Inclusion requires complicated extracranial AVM; genetic testing for RAS/MAPK variants is preferred. Primary endpoint is disease response at month 6 using composite radiographic/clinical/functional/QoL criteria. https://clinicaltrials.gov/study/NCT04258046 (NCT04258046 chunk 1)
• Trametinib for Ras/MAPK pathway vascular anomalies (VATCH): NCT07549646 (CHOP; Phase 2; ACTIVE_NOT_RECRUITING; ages 2 months–30 years). Primary endpoint uses an individualized composite response after 6 cycles (radiology + PROMIS PRO + clinical benefit). https://clinicaltrials.gov/study/NCT07549646 (NCT07549646 chunk 1)
• Trametinib for complicated vascular anomalies (pediatric): NCT07072403 (West China Hospital; Phase 1/2; ACTIVE_NOT_RECRUITING; ages 1–18). Objective response defined as ≥20% lesion volume reduction at month 12. https://clinicaltrials.gov/study/NCT07072403 (NCT07072403 chunk 1)
• Sirolimus for severe AVMs: NCT02042326 (Amiens; Phase 2; prospective evaluation of efficacy/safety in severe arteriovenous malformations). https://clinicaltrials.gov/study/NCT02042326 (morin2025vascularmalformationsfrom pages 6-7)

Relevance to CM‑AVM specifically: These trials generally enroll AVMs/vascular anomalies rather than CM‑AVM genetically defined cohorts; however, CM‑AVM lesions are mechanistically linked to RAS/MAPK dysregulation and therefore overlap with eligibility in Ras/MAPK‑targeted vascular anomaly trials. (palermo2025capillarymalformation–arteriovenousmalformation pages 1-2, NCT04258046 chunk 1)

13. Prevention

Primary prevention

No known primary prevention exists for inherited CM‑AVM aside from reproductive options.

Secondary/tertiary prevention

• Cascade testing and early detection: Because of autosomal dominant inheritance and clinically significant occult lesions, genetic confirmation plus appropriate imaging surveillance is emphasized to prevent complications. (palermo2025capillarymalformation–arteriovenousmalformation pages 11-13, engel2023prevalenceandpredictors pages 13-17)
• Prenatal considerations: Coccia et al. stress careful interpretation of prenatal ultrasound signs and recommend genetic counseling and family evaluation because undiagnosed deep malformations can be fatal in newborns and relatives with the same variant. (coccia2023prenatalclinicalfindings pages 9-11)

14. Other Species / Natural Disease

No naturally occurring CM‑AVM syndrome in non‑human species was identified in the retrieved sources.

15. Model Organisms

Animal and experimental systems support causal biology: * Mouse (EPHB4 kinase-domain variant; two-hit requirement): Zhao et al. report that mice expressing an EPHB4 missense variant (Phe867Leu) show disrupted angiogenesis and impaired arterial–capillary–venous network development, with severe phenotypes requiring an additional “second‑hit” allele. (zhao2023geneticdysregulationof pages 12-14, zhao2023mutationofkey pages 1-2) * Mouse retinal angiogenesis (conditional Ephb4 inactivation): Eph/ephrin signaling experiments in retina show EphB4 influences endothelial sorting and arterial specification, supporting relevance to EPHB4‑related vascular malformations. (stewen2024ephephrinsignalingcouples pages 1-2) * Zebrafish ephb4 depletion: zebrafish models show supernumerary arteriovenous connections and altered venous structures with ephb4 perturbation, consistent with disturbed arteriovenous patterning. (zhao2023geneticdysregulationof pages 35-39)

Model limitations: Most models address developmental angiogenesis and may not perfectly recapitulate focal post‑zygotic mosaic lesions typical of human CM‑AVM; mechanistic reviews explicitly note the need for models that more closely mimic somatic second hits. (chen2023ephb4rasa1mediatednegativeregulation pages 7-9)

Recent Developments (2023–2024 prioritization)

1. Integrated genetics + single‑cell approaches in cerebrovascular malformations (2023): Zhao et al. (Nature Communications, 2023‑11) combined large-scale human exome analysis with cerebrovascular single-cell transcriptomics, implicating RASA1 and EPHB4 in a developing endothelial Ras signaling network relevant to vein-of-Galen malformations and, by extension, CM‑AVM biology. https://doi.org/10.1038/s41467-023-43062-z (zhao2023mutationofkey pages 1-2)
2. Prenatal CM‑AVM characterization (2023): Coccia et al. (Genes, 2023‑02) consolidate prenatal warning signs and stress the risk of fatal neonatal complications if deep malformations are missed. https://doi.org/10.3390/genes14030549 (coccia2023prenatalclinicalfindings pages 9-11)
3. Precision medicine framing in vascular anomalies (2024): Seront et al. (ASH Hematology, 2024‑12) emphasize genomic testing for vascular malformations and discuss targeted inhibitors (MEK, mTOR/PI3K) as an emerging management paradigm. https://doi.org/10.1182/hematology.2024000598 (seront2024molecularlandscapeand pages 1-3, seront2024molecularlandscapeand pages 6-7)
4. Mechanistic arteriovenous specification biology (2024): Stewen et al. (Nat Commun, 2024‑04) provide in vivo evidence that EphB4/ephrin signaling couples endothelial cell sorting and arterial specification, relevant to EPHB4‑driven CM‑AVM2. https://doi.org/10.1038/s41467-024-46300-0 (stewen2024ephephrinsignalingcouples pages 1-2)

Key Gaps / Not Available in Retrieved Evidence

• ICD‑10/ICD‑11 codes and MeSH terms were not captured in the retrieved full texts in this run.
• Population prevalence/incidence estimates were not available from the retrieved sources.
• Variant‑level population allele frequencies (gnomAD) and ClinVar aggregation were not retrieved in the excerpts.

References

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8. (coccia2023prenatalclinicalfindings pages 9-11): Emanuele Coccia, Lara Valeri, Roberta Zuntini, Stefano Giuseppe Caraffi, Francesca Peluso, Luca Pagliai, Antonietta Vezzani, Zaira Pietrangiolillo, Francesco Leo, Nives Melli, Valentina Fiorini, Andrea Greco, Francesca Romana Lepri, Elisa Pisaneschi, Annabella Marozza, Diana Carli, Alessandro Mussa, Francesca Clementina Radio, Beatrice Conti, Maria Iascone, Giancarlo Gargano, Antonio Novelli, Marco Tartaglia, Orsetta Zuffardi, Maria Francesca Bedeschi, and Livia Garavelli. Prenatal clinical findings in rasa1-related capillary malformation-arteriovenous malformation syndrome. Genes, 14:549, Feb 2023. URL: https://doi.org/10.3390/genes14030549, doi:10.3390/genes14030549. This article has 14 citations.

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