Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.
Florian JobShuji MizumotoLaurie SmithNatario CouserAshley BrazilHoward SaalMelanie PattersonMargaret I GibsonSarah SodenNeil MillerIsabelle ThiffaultCarol SaundersShuhei YamadaKatrin HoffmannKazuyuki SugaharaEmily G FarrowPublished in: BMC medical genetics (2016)
This is the first report of a patient with compound heterozygosity for a null variant in trans with a missense in B3GAT3 resulting in a severe phenotype, expanding both the genotypic and phenotypic spectrum of B3GAT3-related disease.