Associated Papers
Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.
Piwar H et al.
International Journal of Molecular Sciences, 2024
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
Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases.
Ranza E et al.
Clinical Genetics, 2017
Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2.
Guo L et al.
Journal of Human Genetics, 2017
XYLT1 mutations in Desbuquois dysplasia type 2.
Bui C et al.
American Journal of Human Genetics, 2014
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