KEGG   VARIANT: 64132v1
Entry
64132v1                      Variant                               
Name
XYLT2 mutation
Gene
XYLT2  xylosyltransferase 2 [KO:K00771]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608125
Network
nt06029  Glycosaminoglycan biosynthesis
Disease
H01496  Spondyloocular syndrome
Reference
PMID:26027496
  Authors
Munns CF, Fahiminiya S, Poudel N, Munteanu MC, Majewski J, Sillence DO, Metcalf JP, Biggin A, Glorieux F, Fassier F, Rauch F, Hinsdale ME
  Title
Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.
  Journal
Am J Hum Genet 96:971-8 (2015)
DOI:10.1016/j.ajhg.2015.04.017
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