Associated Papers
Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.
Piwar H et al.
International Journal of Molecular Sciences, 2024
Novel compound heterozygous variants in XYLT1 gene caused Desbuquois dysplasia type 2 in an aborted fetus: a case report.
Rajabi F et al.
Bmc Pediatrics, 2022
Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.
Olkinuora AP et al.
Frontiers in Oncology, 2022
36387175 (PubMed )
Supplement: Table_7.xlsx › Table_S7
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
Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings.
Silveira C et al.
American Journal of Medical Genetics. Part A, 2016
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
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