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Mutations in MED12 cause X-linked Ohdo syndrome. – Abstract – Europe PMC

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Amazon Advertising Find, attract, and engage customers. CitePeer Related Articles http: 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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Withoutabox Submit to Film Festivals. Abstract Yoischen syndrome comprises a heterogeneous group of disorders characterized by intellectual disability ID and typical facial features, including blepharophimosis.

In the two families, MED12 missense mutations c. We performed exome sequencing in two families, each with two affected males with Ohdo syndrome MKB type.

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