Associated Papers
Exome Sequencing Reveals Novel Variants in Genetic Skeletal Disorders: Insights From a Cohort in Southwest Iran.
Zabihi R et al.
Clinical Genetics, 2026
High Occurrence of a Missense Variant (c.471C>A) in the FGF23 Gene Related to Hyperostosis-Hyperphosphatemia Syndrome With a Possible Founder Effect.
Sedghi M et al.
Human Mutation, 2025
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
Hyperostosis-hyperphosphatemia syndrome (HHS): report of two cases with a recurrent mutation and review of the literature.
Ghafouri-Fard S et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2015
A new missense mutation in FGF23 gene in a male with hyperostosis-hyperphosphatemia syndrome (HHS).
Abbasi F et al.
Gene, 2014
Select a paper to view details