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Article

Hypotrichosis associated with capillary malformation-arteriovenous malformation syndrome.

The British journal of dermatology - 1 Feb 2015

Martín-Santiago A, Knöpfel N, del Pozo J, Escalas J, Bartolomé B, Janer V, Pascual M, Nieto C, Hervás J A

Abstract excerpt

BACKGROUND: Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is associated with multifocal small CMs and a high risk for high-flow lesions. It is an autosomal dominant disorder, caused by RASA1 gene mutations. Recently, two novel clinical features have been identified: numerous small pale halos with central punctate red spots, and naevus anemicus. OBJECTIVES: To identify the prevalence of the...

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Source

Identifiers

PMID: 25059281
DOI: 10.1111/bjd.13287

Genes

RASA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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