Article
Mutations in MED12 cause X-linked Ohdo syndrome.
American journal of human genetics - 7 Mar 2013
Vulto-van Silfhout Anneke T, de Vries Bert B A, van Bon Bregje W M, Hoischen Alexander, Ruiterkamp-Versteeg Martina, Gilissen Christian, Gao Fangjian, van Zwam Marloes, Harteveld Cornelis L, van Essen Anthonie J, Hamel Ben C J, Kleefstra Tjitske, Willemsen Michèl A A P, Yntema Helger G, van Bokhoven Hans, Brunner Han G, Boyer Thomas G, de Brouwer Arjan P M
Abstract excerpt
Ohdo syndrome comprises a heterogeneous group of disorders characterized by intellectual disability (ID) and typical facial features, including blepharophimosis. Clinically, these blepharophimosis-ID syndromes have been classified in five distinct subgroups, including the Maat-Kievit-Brunner (MKB) type, which, in contrast to the others, is characterized by X-linked inheritance and facial coarsening at older age....
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