KEGG   VARIANT: 121214v1
Entry
121214v1                      Variant                              
Name
SDR9C7 mutation
Type
Loss of function
Gene
SDR9C7  short chain dehydrogenase/reductase family 9C member 7 [KO:K24425]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609769
Network
nt06545  Cornified envelope formation
Disease
H00734  Autosomal recessive congenital ichthyosis
Reference
PMID:28173123
  Authors
Shigehara Y, Okuda S, Nemer G, Chedraoui A, Hayashi R, Bitar F, Nakai H, Abbas O, Daou L, Abe R, Sleiman MB, Kibbi AG, Kurban M, Shimomura Y
  Title
Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis.
  Journal
Hum Mol Genet 25:4484-4493 (2016)
DOI:10.1093/hmg/ddw277
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