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Help us improve our Author Pages by updating your bibliography and submitting a new or current image and biography. American Journal of Human Genetics [07 Feb92 3: Find all citations in this journal default. In the two families, MED12 missense mutations c. Learn more about Amazon Prime.


SerPro] segregating with the phenotype were identified. Amazon Inspire Digital Educational Resources. We performed exome sequencing in two families, each with two affected males with Ohdo syndrome MKB type.

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How does Europe PMC derive its citations network? HisAsn] in MED12 was detected. Abstract Ohdo syndrome comprises a heterogeneous group of disorders characterized by intellectual disability ID and typical facial features, including blepharophimosis. Either your web browser doesn’t support Javascript or it is currently turned off. High to Low Avg. No matching affiliation detected. Amazon Restaurants Food delivery from local restaurants.

Please try uans request again later. Or filter your current search. Amazon Music Stream millions of songs. 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

Are you an author? Upon subsequent analysis of an additional cohort of nine simplex male individuals with Ohdo syndrome, one additional de hasn missense change c. All Formats Paperback Hardcover Sort by: 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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