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UnknownSkeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype.
Not available
S-EPMC4384644 | biostudies-literature
UnknownA homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.
Not available
S-EPMC4654953 | biostudies-literature
UnknownXylosyltransferase-Deficiency in Human Dermal Fibroblasts Induces Compensatory Myofibroblast Differentiation and Long-Term ECM Reduction.
Not available
S-EPMC10967791 | biostudies-literature
UnknownExpansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia.
Not available
S-EPMC6777465 | biostudies-literature
UnknownMutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias.
Not available
S-EPMC4637088 | biostudies-literature
UnknownSevere Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
Not available
S-EPMC6826576 | biostudies-literature
UnknownFurther Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.
Not available
S-EPMC6770791 | biostudies-literature
UnknownFunctional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.
Not available
S-EPMC5117547 | biostudies-literature
UnknownHigh Fidelity of Mouse Models Mimicking Human Genetic Skeletal Disorders.
Not available
S-EPMC7010808 | biostudies-literature
ProteomicsGlycosaminoglycan linkage region of urinary bikunin as a potentially useful biomarker for β3GalT6-deficient spondylodysplastic Ehlers-Danlos syndrome
The spondylodysplastic type of Ehlers-Danlos syndromes (spEDS) is caused by genetic defects in the B4GALT7 or B3GALT6 genes both deranging the biosynthesis of the glycosaminoglycan linkage region of chondroitin/dermatan sulfate and heparan sulfate proteoglycans. In this study we have analyzed the li...
ORGANISM(S): Homo sapiens (Human) 
2022-06-29 | PXD033230 | Pride
Liquid chromatography Ehlers-danlos syndrome Tandem mass spectrometry Glycoproteomics Linkeropathies Β3galt6 Glycopeptides Bikunin Glycosaminoglycan linkage region 
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