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HisAsn] in MED12 was detected.

Amazon Advertising Find, attract, and engage customers. In the latter case, please turn on Javascript support in your web browser and reload this page. Upon subsequent analysis of an additional cohort of nine simplex male hwns with Ohdo syndrome, one additional de novo missense change c.

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All Formats Paperback Hardcover Sort by: Withoutabox Submit to Film Festivals. Abstract Ohdo syndrome comprises a heterogeneous group of disorders characterized by intellectual disability ID and typical facial features, including blepharophimosis.

Europe PMC requires Javascript to function effectively. We performed exome sequencing in two families, each with two affected males with Ohdo syndrome MKB type. 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. ComiXology Thousands of Digital Comics.

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The occurrence of three different hemizygous 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. Get fast, free shipping with Amazon Prime.


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

SerPro] segregating with the phenotype were identified. Amazon Restaurants Food hsns from local restaurants. Or filter your current search. Find all citations in this journal default. Are you an author?

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