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Either your web browser doesn’t support Javascript or it is currently turned off. Alexa Actionable Analytics for the Web. Abstract Ohdo syndrome comprises a heterogeneous group of disorders characterized by intellectual disability ID and typical facial features, including blepharophimosis. Amazon Advertising Find, attract, and engage customers.

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No matching affiliation detected. HisAsn] in MED12 was detected.

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Popularity Popularity Featured Price: High to Low Avg. All Formats Paperback Hardcover Sort by: 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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Europe PMC requires Javascript to function effectively. The occurrence of three different hoishcen missense mutations in three unrelated families affected by Ohdo syndrome MKB type shows that mutations in MED12 are the underlying cause of this X-linked form of Ohdo syndrome.