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Abstract Ohdo syndrome comprises a heterogeneous group of disorders characterized by intellectual disability ID and typical facial features, including blepharophimosis. Read Article at publisher’s site. Get fast, free shipping with Amazon Prime. Get to Know Us. Amazon Restaurants Food delivery from local restaurants. AmazonGlobal Ship Orders Internationally.

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

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SerPro] segregating with the phenotype were identified. East Dane Designer Men’s Fashion. All Formats Paperback Hardcover Sort by: In the two families, MED12 missense mutations c. HisAsn] in Uans was detected.

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Withoutabox Submit to Film Festivals. The occurrence of three different hemizygous missense mutations in three unrelated families affected by Ohdo hojschen MKB type shows that mutations in MED12 are the underlying cause of this X-linked form of Ohdo syndrome. Popularity Popularity Featured Price: There’s a problem loading this menu right now.


Find all citations in this journal default. Amazon Renewed Refurbished products with a warranty. Amazon Drive Cloud storage from Amazon. 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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