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English Choose a language for shopping. American Journal of Human Genetics [07 Feb92 3: SerPro] segregating with the phenotype were identified. Gene Ontology GO Terms. Amazon Drive Cloud storage from Amazon. Find all citations in this journal default.
AmazonGlobal Ship Orders Internationally. Abstract Ohdo syndrome comprises a heterogeneous group of disorders characterized by intellectual disability ID and typical facial features, including blepharophimosis. Amazon Inspire Digital Educational Resources.
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.
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Mutations in MED12 cause X-linked Ohdo syndrome. – Abstract – Europe PMC
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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.