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Article

Another face of RASA1: Report of familial germline variant in RASA1 with dysmorphic features.

American journal of medical genetics. Part A - 1 Nov 2024

Hume Esteban, Cossio María-Laura, Vargas Paula, Cubillos María Paz, Maccioni Andrea, Lay-Son Guillermo

Abstract excerpt

RASopathies encompass a diverse set of disorders affecting genes that encode proteins within the RAS-MAPK pathway. RASA1 mutations are the cause of an autosomal dominant disorder called capillary malformation-arteriovenous malformation type 1 (CM-AVM1). Unlike other RASopathies, facial dysmorphism has not been described in these patients. We phenotypically delineated a large family of individuals with multifocal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38934655
DOI: 10.1002/ajmg.a.63711

Genes

RASA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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