Associated Papers
Predicted deleterious variants in the human genome relevant to gene therapy with adeno-associated virus vectors.
Rostami MR et al.
Molecular Therapy. Methods & Clinical Development, 2023
38089635 (PubMed )
Supplement: mmc2.xlsx › Supplemental_Table_II
B3GALT6-linkeropathy: Three illustrative patients spanning the disease spectrum.
Coetzer KC et al.
European Journal of Medical Genetics, 2023
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.
Scott TM et al.
Journal of Medical Genetics, 2022
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
Caraffi SG et al.
Genes, 2019
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.
Van Damme T et al.
Human Molecular Genetics, 2018
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
The Ehlers-Danlos syndromes, rare types.
Brady AF et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017
A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea.
Sellars EA et al.
Seminars in Pediatric Neurology, 2014
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