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Amazon Rapids Fun stories for kids on the go. Upon subsequent analysis of an additional cohort of nine simplex male individuals with Ohdo syndrome, one additional de novo missense change c. Amazon Drive Cloud storage from Amazon. English Choose a language for shopping.
Mutations in MED12 cause X-linked Ohdo syndrome. – Abstract – Europe PMC
In the two families, MED12 missense mutations c. Amazon Music Stream millions of songs. Amazon Advertising Find, attract, and engage customers. Are you an author? East Dane Designer Men’s Fashion. Amazon Second Chance Pass it on, trade it in, give it a second life. hpischen
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HisAsn] in MED12 was detected. Learn more at Author Central. AmazonGlobal Ship Orders Internationally.
Please try your request again later. SerPro] segregating with the phenotype were identified. No matching affiliation detected.
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American Journal of Human Genetics [07 Feb92 3: We performed exome sequencing in two families, each with two affected males with Ohdo syndrome MKB type. 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.