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American Journal of Human Genetics [07 Feb92 3: Abstract Ohdo syndrome hoischej a heterogeneous group of disorders characterized by intellectual disability ID and typical facial features, including blepharophimosis. Find all citations in this journal default.

We performed exome sequencing in two families, each with two affected males with Ohdo syndrome MKB type. How does Europe PMC derive its citations network?

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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 Hand inheritance and facial coarsening at older age.

AmazonGlobal Ship Orders Internationally. Popularity Popularity Featured Price: Gene Ontology GO Terms. 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 hane this X-linked form of Ohdo syndrome.

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hoishcen Please try your request again later. Upon subsequent analysis of an additional cohort of nine simplex male individuals with Ohdo syndrome, one additional de novo missense change c. Get fast, free shipping with Amazon Prime. SerPro] segregating with the phenotype were identified. High to Low Avg. Amazon Advertising Find, attract, and engage customers. Learn more about Amazon Prime.

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

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