Associated Papers
Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.
Piwar H et al.
International Journal of Molecular Sciences, 2024
Structural Basis for the Initiation of Glycosaminoglycan Biosynthesis by Human Xylosyltransferase 1.
Briggs DC et al.
Structure (london, England : 1993), 2018
Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II.
Al-Jezawi NK et al.
American Journal of Medical Genetics. Part A, 2017
Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2.
Guo L et al.
Journal of Human Genetics, 2017
Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.
Jamsheer A et al.
Journal of Human Genetics, 2016
Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias.
Mizumoto S et al.
Biomed Research International, 2015
XYLT1 mutations in Desbuquois dysplasia type 2.
Bui C et al.
American Journal of Human Genetics, 2014
Human genetic disorders and knockout mice deficient in glycosaminoglycan.
Mizumoto S et al.
Biomed Research International, 2014
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