HANS HOISCHEN PDF

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

All Formats Paperback Hardcover Sort by: Amazon Drive Cloud storage from Amazon. We performed exome sequencing in two families, each with two affected males with Ohdo syndrome MKB type. American Journal of Human Genetics [07 Feb92 3: Amazon Renewed Refurbished products with a warranty.

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Abstract Ohdo syndrome comprises a heterogeneous group of disorders characterized by intellectual disability ID and typical facial features, including blepharophimosis. Low to High Price: Help us has our Author Pages by updating your bibliography and submitting a new or current image and biography. Amazon Music Stream millions of songs.

Amazon Advertising Find, attract, and engage customers. In the two families, MED12 missense mutations c.

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ComiXology Thousands of Digital Comics. 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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How does Europe PMC derive its citations network? SerPro] segregating with the phenotype were identified. Gene Ontology GO Terms. Popularity Popularity Featured Price: Are you an author? Amazon Inspire Digital Educational Resources. CitePeer Related Articles http: High to Low Avg. Either your web browser doesn’t support Javascript or it is currently turned off.

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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Read Article at publisher’s site. HisAsn] in MED12 was detected.