Article
A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome).
Clinical genetics - 1 Feb 2011
Rump P, Niessen R C, Verbruggen K T, Brouwer O F, de Raad M, Hordijk R
Abstract excerpt
Opitz-Kaveggia syndrome is a rare X-linked multiple congenital anomalies and intellectual disability disorder caused by the recurrent p.R961W mutation in the MED12 gene. Twenty-three affected males from 10 families with this mutation in the MED12 gene have been described so far. Here we report on a new family with three affected cousins, in which we identified a novel MED12 mutation (p.G958E). This is the first...
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