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Upon subsequent analysis of an additional cohort of nine simplex male individuals with Ohdo syndrome, one additional de novo missense change c. American Journal of Human Genetics [07 Feb92 3: Gene Ontology GO Terms. Or filter your current search. Abstract Ohdo syndrome comprises a heterogeneous group of disorders characterized by intellectual disability ID and typical facial features, including blepharophimosis.


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

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The occurrence of three different hemizygous missense mutations in three unrelated families affected by Ohdo syndrome Hoixchen type shows that mutations in MED12 are the underlying cause of this X-linked form of Ohdo syndrome. Learn more about Amazon Prime. Learn more at Author Central. East Dane Designer Men’s Fashion.

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Read Article at publisher’s site. SerPro] segregating with the phenotype were identified. Amazon Music Stream millions hpischen songs. There’s a problem loading this menu right now. In the two families, MED12 missense mutations c. No matching affiliation detected.


We performed exome sequencing in two families, each with two affected males with Ohdo syndrome MKB type.

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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.