Ontology highlight
ABSTRACT:
SUBMITTER: Revencu N
PROVIDER: S-EPMC3666457 | biostudies-literature | 2013 Apr
REPOSITORIES: biostudies-literature
Revencu N N Boon L M LM Dompmartin A A Rieu P P Busch W L WL Dubois J J Forzano F F van Hagen J M JM Halbach S S Kuechler A A Lachmeijer A M A AM Lähde J J Russell L L Simola K O J KO Mulliken J B JB Vikkula M M
Molecular syndromology 20130411 4
The RASA1 gene encodes p120RASGAP, a multidomain cytoplasmic protein that acts as a negative regulator of the RAS signalling pathway. Heterozygous loss-of-function RASA1 mutations were identified in patients with Parkes Weber syndrome and multifocal capillary malformations. This syndrome is characterised by a capillary blush on an extremity, arteriovenous microfistulas, and bony and soft tissue hypertrophy. The aim of this study was to test RASA1 in 2 disorders characterised by asymmetric limb e ...[more]