KEGG   VARIANT: 10682v1
Entry
10682v1                      Variant                               
Name
EBP deficiency
Type
Loss of function
Gene
EBP  EBP cholestenol delta-isomerase [KO:K01824]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300205
Network
nt06034  Cholesterol biosynthesis
Disease
H01194  X-linked chondrodysplasia punctata
H02248  MEND syndrome
Reference
PMID:10391219
  Authors
Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, Wilcox WR, Rimoin DL, Smith M, Kratz L, Kelley RI, Valle D
  Title
Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hunermann syndrome.
  Journal
Nat Genet 22:291-4 (1999)
DOI:10.1038/10357
Reference
PMID:20949533
  Authors
Furtado LV, Bayrak-Toydemir P, Hulinsky B, Damjanovich K, Carey JC, Rope AF
  Title
A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.
  Journal
Am J Med Genet A 152A:2838-44 (2010)
DOI:10.1002/ajmg.a.33674
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