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
A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2.
Barboza-Cerda MC et al.
American Journal of Medical Genetics. Part A, 2014
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
The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome.
Cañueto J et al.
Biochimica Et Biophysica Acta, 2014
TM6SF2 and MAC30, new enzyme homologs in sterol metabolism and common metabolic disease.
Sanchez-Pulido L et al.
Frontiers in Genetics, 2014
Non-lethal non-mosaic male with Conradi-Hunermann syndrome caused by a novel EBP c.356T>G mutation.
Bode H et al.
American Journal of Medical Genetics. Part A, 2013
Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.
Herman GE et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.
Furtado LV et al.
American Journal of Medical Genetics. Part A, 2010
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