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East Dane Designer Men’s Fashion. Has Second Chance Pass it on, trade it in, give it a second life. In the two families, MED12 missense mutations c. High to Low Avg. Amazon Drive Cloud storage from Amazon.

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English Choose a language for shopping. There’s a problem loading this menu hnas now. 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.


CitePeer Related Articles http: SerPro] segregating with the phenotype were identified. Help us improve our Author Pages by updating your bibliography and submitting a new or current image and biography. Gene Ontology GO Terms. We performed exome sequencing in two families, each with two affected males with Ohdo syndrome MKB type. Popularity Popularity Featured Hlischen Provide feedback about this page. Get fast, free shipping with Amazon Prime.

In the latter case, please turn on Javascript support in your web browser and reload this page. Alexa Actionable Analytics for the Web. Amazon Rapids Fun stories for kids on the go. Abstract Ohdo syndrome comprises a heterogeneous group of disorders characterized by intellectual disability ID and typical facial features, including blepharophimosis.

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Learn more at Author Central. Are you an author? Upon subsequent analysis of an additional cohort of nine simplex male individuals with Ohdo syndrome, one additional de novo missense change c.

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. Please try your request again later.

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

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