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Article

RASA1 analysis: clinical and molecular findings in a series of consecutive cases.

European journal of medical genetics - 1 Feb 2012

Wooderchak-Donahue Whitney, Stevenson David A, McDonald Jamie, Grimmer J Fredrik, Gedge Friederike, Bayrak-Toydemir Pinar

Abstract excerpt

RASA1 mutations have been reported to be associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM), arteriovenous fistulas (AVF), or Parkes Weber syndrome. But the number of cases with RASA1 mutations reported to date is relatively small and the spectrum of phenotypes caused by mutations in this gene is not well defined. Mutation results and clinical findings in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22200646
DOI: 10.1016/j.ejmg.2011.11.008

Genes

RASA1

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