Article
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).
Molecular biology reports - 4 Jan 2025
Bibi Hadiba, Ahmad Riaz, Rahman Fatima, Maqbool Shazia, Naeem Muhammad, Efthymiou Stephanie, Houlden Henry
Abstract excerpt
BACKGROUND: Male EBP disorder with neurologic defects (MEND syndrome) is an extremely rare disorder with a prevalence of less than 1/1,000,000 individuals worldwide. It is inherited as an X-linked recessive disorder caused by impaired sterol biosynthesis due to nonmosaic hypomorphic EBP variants. MEND syndrome is characterized by variable clinical manifestations including intellectual disability, short stature,...
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