Article
Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene.
European journal of medical genetics - 1 Mar 2012
de Wijn Robert S, Oduber Charlène E U, Breugem Corstiaan C, Alders Marielle, Hennekam Raoul C M, van der Horst Chantal M A M
Abstract excerpt
Hereditary capillary malformations are known to be caused by mutations in the RASA1 gene. The associated phenotype is still subject of debate. The purpose of this study was to conduct a RASA1 mutation analysis in the family that led to the initial discovery of the 5q locus, and to delineate the associated phenotype. A novel truncating mutation was identified in all clinically affected individuals and in none of...
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