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SerPro] segregating with the phenotype were identified. Gene Ontology GO Terms.
Alexa Actionable Analytics for the Web. 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.
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Amazon Renewed Refurbished products with a warranty. Or filter your current search. Learn more at Author Central. HisAsn] in MED12 was detected. Learn more about Amazon Prime. Amazon Advertising Find, attract, hoiscnen engage customers.
We performed exome sequencing in two families, each with two affected males with Ohdo syndrome MKB type. Low to High Price: High to Low Avg. There’s a problem loading this menu right now. CitePeer Related Articles http: Abstract Ohdo syndrome comprises a heterogeneous group of disorders hoizchen by intellectual disability ID and typical facial features, including blepharophimosis. No matching affiliation detected. American Journal of Human Genetics [07 Feb92 3: Amazon Music Stream millions of songs.
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Shopbop Designer Fashion Brands. In the two families, MED12 missense mutations c.
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Mutations in MED12 cause X-linked Ohdo syndrome. – Abstract – Europe PMC
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Amazon Inspire Digital Educational Resources. Upon subsequent analysis of an additional cohort of nine simplex male individuals with Ohdo syndrome, one additional de novo missense change c.
East Dane Designer Men’s Fashion. Clinically, these blepharophimosis-ID syndromes have hoisdhen 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. Find all citations in this journal default.
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