KEGG   VARIANT: 1717v1
Entry
1717v1                      Variant                                
Name
DHCR7 deficiency
Type
Loss of function
Gene
DHCR7  7-dehydrocholesterol reductase [KO:K00213]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602858
Network
nt06034  Cholesterol biosynthesis
Disease
H00161  Smith-Lemli-Opitz syndrome
Reference
PMID:9634533
  Authors
Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD
  Title
Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.
  Journal
Am J Hum Genet 63:55-62 (1998)
DOI:10.1086/301936
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