Associated Papers
Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.
Rush ET et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022
Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.
Laurent MR et al.
Frontiers in Endocrinology, 2021
X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3'-UTR Mutation c.*231A>G (A Retrospective Case-Control Study).
Smith PS et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2020
Vitamin D-Binding Protein Deficiency and Homozygous Deletion of the GC Gene.
Baer AN et al.
The New England Journal of Medicine, 2019
Vitamin D-Binding Protein Deficiency and Homozygous Deletion of the GC Gene.
Brown MA et al.
The New England Journal of Medicine, 2019
Vitamin D-Binding Protein Deficiency and Homozygous Deletion of the GC Gene.
Hollis BW
The New England Journal of Medicine, 2019
Vitamin D-Binding Protein Deficiency and Homozygous Deletion of the GC Gene.
Berg AH et al.
The New England Journal of Medicine, 2019
Vitamin D-Binding Protein Deficiency and Homozygous Deletion of the GC Gene. Reply.
Bassyouni H et al.
The New England Journal of Medicine, 2019
PHEX 3'-UTR c.*231A>G near the polyadenylation signal is a relatively common, mild, American mutation that masquerades as sporadic or X-linked recessive hypophosphatemic rickets.
Mumm S et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2015
Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets.
Ichikawa S et al.
Bone, 2008