Associated Papers
Molecular and computational analysis of a novel pathogenic variant in emopamil-binding protein (EBP) involved in cholesterol biosynthetic pathway causing a rare male EBP disorder with neurologic defects (MEND syndrome).
Bibi H et al.
Molecular Biology Reports, 2025
De novo mutation of emopamil binding protein (EBP) gene in a girl with Conradi-Hünermann-Happle syndrome.
Soler-Cardona A et al.
Clinical Case Reports, 2019
An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.
Hartill VL et al.
American Journal of Medical Genetics. Part A, 2014
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