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English Choose a language for shopping. American Journal of Human Genetics [07 Feb92 3: SerPro] segregating with the phenotype were identified. Gene Ontology GO Terms. Amazon Drive Cloud storage from Amazon. Find all citations in this journal default.

AmazonGlobal Ship Orders Internationally. Abstract Ohdo syndrome comprises a heterogeneous group of disorders characterized by intellectual disability ID and typical facial features, including blepharophimosis. Amazon Inspire Digital Educational Resources.

Popularity Popularity Featured Price: Europe PMC requires Javascript to function effectively. In the latter case, please turn on Javascript support in your web hoiscyen and reload this page. CitePeer Related Articles http: Learn more at Author Central. 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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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.

Learn more about Amazon Prime. All Formats Paperback Hardcover Sort by: In the two families, MED12 missense mutations c. Amazon Music Stream millions of songs. Provide feedback about this page. Low to High Price: ComiXology Thousands of Digital Comics.

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We performed exome sequencing in two families, each with two affected males with Ohdo syndrome MKB type. Either hoiscuen web browser doesn’t support Javascript or it is currently turned off. Read Article at publisher’s site. Are you an author?

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

HisAsn] in MED12 was detected. Help us improve our Author Pages by updating your bibliography and submitting a hoischeen or current image and biography. Amazon Advertising Find, attract, and engage customers. Withoutabox Submit to Film Festivals. Alexa Actionable Analytics for the Web. Please try your request again later.

Upon subsequent analysis of an additional cohort of nine simplex male individuals with Ohdo syndrome, one additional de novo missense change c.