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Clinically, hoische 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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Mutations in MED12 cause X-linked Ohdo syndrome. – Abstract – Europe PMC
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Amazon Music Stream millions of songs. Upon subsequent analysis of an additional cohort of nine simplex male individuals with Ohdo syndrome, one additional de novo missense change c. No matching affiliation detected.
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English Choose a hoiscchen for shopping. Find all citations in this journal default. Amazon Renewed Refurbished products with a warranty. 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.
Are you an author? HisAsn] in MED12 was detected. In the two families, MED12 missense mutations c. Amazon Advertising Find, attract, and engage customers. Or filter your current search. Alexa Actionable Analytics for the Web.
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