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Article

Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets

14 Jun 2012

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 22695891
DOI: 10.1038/jhg.2012.56

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Related research

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Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic ricketsPMID 22695891Read ↗

Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3.Semantic proximity Read ↗

Hypophosphatemic rickets in an Italian multicentric cohort of 24 subjects: a clinical and molecular characterisation.Semantic proximity Read ↗

Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets.Semantic proximity Read ↗

Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets.Semantic proximity Read ↗

Genetic and clinical profile of patients with hypophosphatemic ricketsSemantic proximity Read ↗

Experience with the targeted next-generation sequencing in the diagnosis of hereditary hypophosphatemic rickets.Semantic proximity Read ↗

Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets.Semantic proximity Read ↗

Spectrum of PHEX Mutations and FGF23 Profiles in a Taiwanese Cohort With X-Linked Hypophosphatemia Including 102 Patients.Semantic proximity Read ↗

Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.Semantic proximity Read ↗

Two De Novo Mosaic Variants Within the Same Site of PHEX Gene in a Girl with X-Linked Hypophosphatemic Rickets.Semantic proximity Read ↗

Family analysis and literature study of hereditary hypophosphatemic rickets with hypercalciuria.Semantic proximity Read ↗

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23Semantic proximity Read ↗

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