Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome

Further defining the phenotypic spectrum ofB4GALT7mutations

(2016) Claire G. Salter et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Corneal clouding, cataract, and colobomas with a novel missense mutation inB4GALT7-a review of eye anomalies in the linkeropathy syndromes

(2016) Teda Arunrut et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome

(2014) François Cartault et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Biochemical Characterization of Human ZIP13 Protein

(2011) Bum-Ho Bin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Ehlers-Danlos features with progeroid facies and mild mental retardation

(2010) Alejandro Hernández et al.   CLINICAL GENETICS

A distinct variant of the Ehlers-Danlos syndrome

(2010) A. Hernández et al.   CLINICAL GENETICS

Third case of a distinct variant of the Ehlers-Danlos Syndrome (EDS)

(2010) A. Hernández et al.   CLINICAL GENETICS