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Alexa Actionable Analytics for the Web. HisAsn] in MED12 was detected. 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. Either your web browser doesn’t support Javascript or hqns is currently turned off.


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

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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. Amazon Second Chance Pass it on, trade it in, give it a second life. Shopbop Designer Fashion Brands. We performed exome sequencing in two families, each with two affected males with Ohdo syndrome MKB type.


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SerPro] segregating with the phenotype were identified. Amazon Inspire Digital Educational Resources.

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