Associated Papers
Genetic Landscape of Robin Sequence: A Systematic Review.
van de Velde S et al.
Clinical Genetics, 2026
41077824 (PubMed )
Supplement: CGE-109-218-s001.pdf
B3GALT6-linkeropathy: Three illustrative patients spanning the disease spectrum.
Coetzer KC et al.
European Journal of Medical Genetics, 2023
Mutant B3GALT6 in a Multiplex Family: A Dominant Variant Co-Segregated With Moderate Malformations.
Shen F et al.
Frontiers in Genetics, 2022
A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations.
Ben-Mahmoud A et al.
Clinical Genetics, 2018
Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders.
Mizumoto S et al.
Pharmaceuticals (basel, Switzerland), 2017
The Ehlers-Danlos syndromes, rare types.
Brady AF et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families.
Vorster AA et al.
Clinical Genetics, 2015
Select a paper to view details