A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.

A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.

Item
http://www.wikidata.org/entity/Q54070899
Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7.Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests.Monkeypox Virus Host Factor Screen Using Haploid Cells Identifies Essential Role of GARP Complex in Extracellular Virus Formation.Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies.Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations.Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases.Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity.Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica.B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.
P2860

A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.

Item
http://www.wikidata.org/entity/Q54070899
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年学术文章
@wuu
2015年学术文章
@zh-cn
2015年学术文章
@zh-hans
2015年学术文章
@zh-my
2015年学术文章
@zh-sg
2015年學術文章
@yue
2015年學術文章
@zh
2015年學術文章
@zh-hant
name
A homozygous B3GAT3 mutation c ...... ype of linkeropathy syndromes.
@en
A homozygous B3GAT3 mutation c ...... ype of linkeropathy syndromes.
@nl
type
label
A homozygous B3GAT3 mutation c ...... ype of linkeropathy syndromes.
@en
A homozygous B3GAT3 mutation c ...... ype of linkeropathy syndromes.
@nl
prefLabel
A homozygous B3GAT3 mutation c ...... ype of linkeropathy syndromes.
@en
A homozygous B3GAT3 mutation c ...... ype of linkeropathy syndromes.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698
P932
P356
P1433
P1476
A homozygous B3GAT3 mutation c ...... ype of linkeropathy syndromes.
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698
P932