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Article

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

Clinical endocrinology - 1 Mar 2011

Ruppe Mary D, Brosnan Patrick G, Au Kit Sing, Tran Phong X, Dominguez Barbara W, Northrup Hope

Abstract excerpt

BACKGROUND: X-linked hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets and autosomal recessive hypophosphatemic rickets make up a group of renal phosphate wasting disorders with common clinical and biochemical characteristics. These three types of rickets are related to mutati...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21050253
DOI: 10.1111/j.1365-2265.2010.03919.x
PMCID: PMC3035757

Genes

DMP1
FGF23
PHEX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21050253-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets.PMID 21050253Read ↗

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

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

Validation of a next-generation sequencing (NGS) panel to improve the diagnosis of X-linked hypophosphataemia (XLH) and other genetic disorders of renal phosphate wasting.Semantic proximity Read ↗

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

A New de novo Mosaic Mutation of PHEX Gene: A Case Report of a Boy with Hypophosphatemic Rickets.Semantic proximity Read ↗

First report in Argentina of a pathogenic DMP1 variant associated with autosomal recessive hypophosphatemic rickets.Semantic proximity Read ↗

Identification of a Novel Pathogenic Variant in the PHEX Gene and Its Mechanistic Implications in X-Linked HypophosphatemiaSemantic proximity Read ↗

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