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

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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.

CitePeer Related Articles http: HisAsn] in MED12 was detected. Amazon Inspire Digital Educational Resources. Amazon Rapids Fun stories for kids on the go. SerPro] segregating with the phenotype were identified. Amazon Music Stream millions of songs.

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Amazon Restaurants Food delivery from local restaurants. There’s a problem loading this menu right now. We performed exome sequencing in two families, each with two affected males with Ohdo syndrome MKB type.

Amazon Advertising Find, attract, and engage customers. Are you an author? All Formats Paperback Hardcover Sort by: Gene Ontology GO Terms. AmazonGlobal Ship Orders Internationally. Popularity Popularity Featured Price: Low to High Price: Upon subsequent analysis of an additional cohort of nine simplex male individuals with Ohdo syndrome, one additional de novo missense change c.

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Shopbop Designer Fashion Brands. Find all citations in this journal default. American Journal of Human Genetics [07 Feb92 3: Abstract Ohdo syndrome comprises a heterogeneous group of disorders characterized by intellectual disability ID and typical facial features, including blepharophimosis.

Amazon Drive Cloud storage from Amazon. 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.

High to Low Avg. Either your web browser doesn’t support Javascript or it is currently turned off. In the two families, MED12 missense mutations c.

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