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Amazon Rapids Fun stories for kids on the go. Upon subsequent analysis of an additional cohort of nine simplex male individuals with Ohdo syndrome, one additional de novo missense change c. Amazon Drive Cloud storage from Amazon. English Choose a language for shopping.

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

In the two families, MED12 missense mutations c. Amazon Music Stream millions of songs. Amazon Advertising Find, attract, and engage customers. Are you an author? East Dane Designer Men’s Fashion. Amazon Second Chance Pass it on, trade it in, give it a second life. hpischen


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Read Article at publisher’s site. In the latter case, please turn on Javascript support in your web browser and reload this page. High to Low Avg. Get to Know Us. Gene Ontology GO Terms. Or filter your current search. 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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HisAsn] in MED12 was detected. Learn more at Author Central. AmazonGlobal Ship Orders Internationally.

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American Journal of Human Genetics [07 Feb92 3: 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.

Low to High Price: ComiXology Thousands of Digital Comics. Either your web browser doesn’t support Javascript or it is currently turned off. Abstract Ohdo syndrome comprises a heterogeneous group of disorders characterized by intellectual disability ID and typical facial features, including blepharophimosis.

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