Article
An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.
American journal of medical genetics. Part A - 1 Apr 2014
Hartill Verity L, Tysoe Carolyn, Manning Nigel, Dobbie Angus, Santra Saikat, Walter John, Caswell Richard, Koster Janet, Waterham Hans, Hobson Emma
Abstract excerpt
We report on a family in which four males over three generations are affected with X-linked recessive developmental delay, learning difficulties, severe behavioral difficulties and mild dysmorphic features. Plasma sterol analysis in three of the four affected males demonstrated increased concentrations of 8-dehydrocholesterol (8-DHC) and cholest-8(9)-enol. All four affected males had a novel hemizygous missense...
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