Variant: rs769391314 

    present in Gene: XYLT1
    present in Chromosome: 16
    Position on Chromosome: 17109015
    Alleles of this Variant: C/A;T

rs769391314 in XYLT1 gene and Dysmorphic features 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.

PMID 23982343 2014 "The missing ""link"": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation."

PMID 27030147 2016 Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.

PMID 26601923 2016 Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia.