B3GALT6-linkeropathy: Three illustrative patients spanning the disease spectrum
Author:
Funder
SAMRC
Bundesministerium für Bildung und Forschung
National Treasury
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference9 articles.
1. 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;Clin. Genet.,2018
2. The Ehlers-Danlos syndromes, rare types;Brady;Am J Med Genet C Semin Med Genet,2017
3. Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes;Leoni;Am. J. Med. Genet.,2021
4. Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder;Malfait;Am. J. Hum. Genet.,2013
5. The 2017 international classification of the Ehlers–Danlos syndromes;Malfait;Am. J. Med. Genet. Part C Semin Med Genet,2017
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