Article
Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.
BMC medical genetics - 21 Nov 2016
Job Florian, Mizumoto Shuji, Smith Laurie, Couser Natario, Brazil Ashley, Saal Howard, Patterson Melanie, Gibson Margaret I, Soden Sarah, Miller Neil, Thiffault Isabelle, Saunders Carol, Yamada Shuhei, Hoffmann Katrin, Sugahara Kazuyuki, Farrow Emily
Abstract excerpt
BACKGROUND: A new disease class of syndromes, described as linkeropathies, which are derived from defects in the glycosaminoglycan-linker region as well as glycosaminoglycan-side chains of proteoglycans is increasingly being recognized as a cause of human disease. Proteoglycans are an essential component of the extracellular matrix. Defects in the enzymatic process of proteoglycan synthesis broadly occur due to...
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