PMID 24581741 2014 XYLT1 mutations in Desbuquois dysplasia type 2.
PMID 28462984 2017 Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II.
rs587777366 in
XYLT1 gene and
DESBUQUOIS DYSPLASIA 2
PMID 23982343 2014 "The missing ""link"": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation."
PMID 28462984 2017 Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II.
PMID 24581741 2014 XYLT1 mutations in Desbuquois dysplasia type 2.