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Or filter your current search. In the two families, MED12 missense mutations c. Gene Ontology GO Terms.

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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 hischen coarsening at older age. Abstract Ohdo syndrome comprises a heterogeneous group of disorders characterized by intellectual disability ID and typical facial features, including blepharophimosis. Amazon Renewed Refurbished products with a warranty.

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All Formats Hooschen Hardcover Sort by: 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. Popularity Popularity Featured Price: Amazon Music Stream millions of songs. Please try your request again later. Withoutabox Submit to Film Festivals.

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Upon subsequent analysis of an additional cohort of nine simplex male individuals with Ohdo syndrome, one additional de novo missense change c. Find all citations in this journal default. Europe PMC requires Javascript to function effectively.

We performed exome sequencing in two families, each with two affected males with Ohdo syndrome MKB type. HisAsn] in MED12 was detected.

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