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Low to High Price: All Formats Paperback Hardcover Sort by: English Choose a language for shopping. In the two families, MED12 missense mutations c. Gene Ontology GO Terms. East Dane Designer Men’s Fashion. Amazon Advertising Find, attract, and engage customers. Amazon Drive Cloud storage from Amazon. 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.

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Shopbop Designer Fashion Brands. We performed exome sequencing in two families, each with two affected males with Ohdo syndrome MKB type.

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HisAsn] in MED12 was detected. Abstract Ohdo syndrome comprises a heterogeneous group of disorders characterized by intellectual disability ID and typical facial features, including blepharophimosis. CitePeer Related Articles http: Or filter your current search.


Learn more about Amazon Prime. There’s a problem loading this menu right now. American Journal of Human Genetics [07 Feb92 3: 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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Find all citations in this journal default. Amazon Restaurants Food delivery from local restaurants. Popularity Popularity Featured Price: Upon subsequent analysis of an additional cohort of nine simplex male individuals with Ohdo syndrome, one additional de novo missense change c.