VARIANT: 26229v1
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Entry
26229v1 Variant
Name
B3GAT3 mutation
Gene
B3GAT3
beta-1,3-glucuronyltransferase 3 [KO:
K10158
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
606374
Network
nt06029
Glycosaminoglycan biosynthesis
Disease
H01498
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
Reference
PMID:
24668659
Authors
von Oettingen JE, Tan WH, Dauber A
Title
Skeletal 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.
Journal
Am J Med Genet A 164A:1580-6 (2014)
DOI:
10.1002/ajmg.a.36487
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