Article
Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation.
American journal of medical genetics - 1 May 2002
Dollfus Hélène, Biswas Partha, Kumaramanickavel Govindsamy, Stoetzel Corinne, Quillet Renaud, Biswas Jyotirmay, Lajeunie Elisabeth, Renier Dominique, Perrin-Schmitt Fabienne
Abstract excerpt
Saethre-Chotzen syndrome is an autosomal dominant disease characterized by craniosynostosis, ptosis, and limb and external ear abnormalities. Variable expressivity is a well-known phenomenon in this disorder. A large Indian family has been recently identified as carrying a nonsense TWIST mutation (Q28 X) in 17 members, of whom 16 were examined in detail. Only 4 (25%) of the patients showed patent craniostenosis,...
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