Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 mutations in PHEX, FGF23 and dentin matrix protein 1 (DMP1), respectively. OBJECTIVE: The objective of the study was to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Extracellular Matrix Proteins
Share to Familial Hypophosphatemic Rickets

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Family Health

Share to Fibroblast Growth Factor-23

Share to Fibroblast Growth Factors

Share to Genetic Diseases, X-Linked

Share to PHEX Phosphate Regulating Neutral Endopeptidase

Share to Phosphoproteins

Source

Open in PubMed Open full text

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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

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

Mutational analysis of patients with FGF23-related hypophosphatemic rickets.Semantic proximity Read ↗

Familial hypophosphatemic rickets caused by a large deletion in PHEX gene.Semantic proximity Read ↗

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

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

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 ↗

Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.