KEGG   VARIANT: 207063v1
Entry
207063v1                      Variant                              
Name
DHRSX deficiency
Type
Loss of function
Gene
DHRSX  dehydrogenase/reductase X-linked [KO:K11170]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 301034
Network
nt06015  N-Glycan biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
Reference
PMID:38821050
  Authors
Wilson MP, Kentache T, Althoff CR, Schulz C, de Bettignies G, Mateu Cabrera G, Cimbalistiene L, Burnyte B, Yoon G, Costain G, Vuillaumier-Barrot S, Cheillan D, Rymen D, Rychtarova L, Hansikova H, Bury M, Dewulf JP, Caligiore F, Jaeken J, Cantagrel V, Van Schaftingen E, Matthijs G, Foulquier F, Bommer GT
  Title
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.
  Journal
Cell 187:3585-3601.e22 (2024)
DOI:10.1016/j.cell.2024.04.041
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