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
Structural basis for human sterol isomerase in cholesterol biosynthesis and multidrug recognition.
Long T et al.
Nature Communications, 2019
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
Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.
Cañueto J et al.
The British Journal of Dermatology, 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
Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata.
Tysoe C et al.
Prenatal Diagnosis, 2008
Novel EBP gene mutations in Conradi-Hünermann-Happle syndrome.
Steijlen PM et al.
The British Journal of Dermatology, 2007
Hypomorphic alleles within the EBP gene cause a phenotype quite different from Conradi-Hünermann-Happle syndrome.
Ikegawa S
American Journal of Medical Genetics. Part A, 2004
Hypomorphic alleles within the EBP gene cause a phenotype quite different from Conradi-Hünermann-Happle syndrome.
Happle R
American Journal of Medical Genetics. Part A, 2003
Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2).
Whittock NV et al.
The Journal of Investigative Dermatology, 2003
Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes.
Herman GE
Human Molecular Genetics, 2003
Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP.
Milunsky JM et al.
American Journal of Medical Genetics. Part A, 2003
Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).
Herman GE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0