B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation

Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype

(2016) Florian Job et al.   BMC Medical Genetics

Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes

(2016) F. Taylan et al.   HORMONE AND METABOLIC RESEARCH

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

(2016) Anas M. Alazami et al.   HUMAN GENETICS

A homozygousB3GAT3mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes

(2015) Kelly L. Jones et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

(2015) Mouna Barat-Houari et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3

(2015) Birgit S. Budde et al.   HUMAN GENETICS

Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-Report of the second family withB3GAT3mutation and expansion of the phenotype

(2014) Julia E. von Oettingen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders

(2013) Masahiro Nakajima et al.   AMERICAN JOURNAL OF HUMAN GENETICS

wANNOVAR: annotating genetic variants for personal genomes via the web

(2012) Xiao Chang et al.   JOURNAL OF MEDICAL GENETICS

Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects

(2011) Sevjidmaa Baasanjav et al.   AMERICAN JOURNAL OF HUMAN GENETICS