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  • Title: A novel mutation in RASA1 causes capillary malformation and limb enlargement.
    Author: Hershkovitz D, Bergman R, Sprecher E.
    Journal: Arch Dermatol Res; 2008 Aug; 300(7):385-8. PubMed ID: 18327598.
    Abstract:
    Capillary malformations are common vascular malformations. Several syndromes have been described in which CMs are present in association with limb enlargement, among these are Klippel-Trenaunay syndrome (KTS) and Parkes Weber syndrome (PWS). Mutations in the RASA1 gene have been shown to underlie the capillary malformation-arterio-venous malformation (CM-AVM) syndrome, sometimes presenting with PWS. We identified a family comprising a patient with CMs and limb enlargement and a number of family members with CM/CM-AVM. A novel mutation in RASA1 was found to underlie the disease in this case. The present results illustrate the extensive degree of phenotypic heterogeneity associated with deleterious mutations in RASA1.
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