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In the two families, MED12 missense mutations c. Find all citations in this journal default.

We performed exome sequencing in two families, each with two affected males with Ohdo syndrome MKB type. Europe PMC requires Javascript to function effectively. Amazon Music Stream millions of songs. Learn more about Amazon Prime. Read Article at publisher’s site. All Formats Paperback Hardcover Sort by: How does Europe PMC derive its citations network? Amazon Second Chance Pass it on, trade it in, give it a second life.

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Low to High Price: Help us improve our Author Pages by updating your bibliography and submitting a new or current image and biography. Provide feedback about this page. HisAsn] in MED12 was detected. Are you an author? Gene Ontology GO Terms. Shopbop Designer Fashion Brands.

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Amazon Advertising Find, attract, and engage customers. Amazon Drive Cloud storage from Amazon. Learn more at Author Central. Abstract Ohdo syndrome comprises a heterogeneous group of disorders characterized by intellectual disability ID and typical facial features, including blepharophimosis.

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

Please try your request again later. Upon subsequent analysis of an additional cohort of nine simplex male individuals hoiscuen Ohdo syndrome, one additional de novo missense change c. East Dane Designer Men’s Fashion.

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Amazon Renewed Refurbished products with a warranty. Get fast, free shipping with Amazon Prime. Get to Know Us. English Choose a language for shopping. 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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Withoutabox Submit to Film Festivals. Alexa Actionable Analytics for the Web. No matching affiliation detected. SerPro] segregating with the phenotype were identified. American Journal of Human Genetics [07 Feb92 3: Popularity Popularity Featured Price: