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

Unusually severe hypophosphatemic rickets caused by a novel and complex re-arrangement of the PHEX gene.

American journal of medical genetics. Part A - 1 Nov 2014

Pekkarinen Tuula, Lorenz-Depiereux Bettina, Lohman Martina, Mäkitie Outi

Abstract excerpt

X-linked hypophosphatemia (XLH) is caused by mutations in PHEX. Several other genetic forms of hypophosphatemia have also been described. These disorders share variable clinical presentation ranging from mild hypophosphatemia to severe lower extremity bowing. We report on a 43-year-old woman with short stature, painful leg deformities, and poor dentation. Her biochemical profile showed hypophosphatemia with renal...

Read the complete abstract on PubMed

Topics

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

Share to Blood Chemical Analysis
Share to Bone and Bones

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Bone Density

Share to Familial Hypophosphatemic Rickets

Share to Genetic Loci

Share to PHEX Phosphate Regulating Neutral Endopeptidase

Share to Radiography

Share to Severity of Illness Index

Source

Identifiers

PMID: 25124877
DOI: 10.1002/ajmg.a.36721

Genes

PHEX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Unusually severe hypophosphatemic rickets caused by a novel and complex re-arrangement of the PHEX gene.PMID 25124877Read ↗

Identification of Rare and Novel PHEX Variants in X-linked Hypophosphatemia.Semantic proximity Read ↗

Novel PHEX mutation associated with hypophosphatemic rickets.Semantic proximity Read ↗

Analysis of 2 novel mutations of PHEX gene inducing X-linked dominant hypophosphatemia rickets in 2 families: Two case reports.Semantic proximity Read ↗

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

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

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

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

A mosaic mutation of phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) in X-linked hypophosphatemic rickets with mild bone phenotypes.Semantic proximity Read ↗

Genetic analysis of three families with X-linked dominant hypophosphatemic rickets.Semantic proximity Read ↗

X-linked hypophosphatemic rickets: a rare case report.Semantic proximity Read ↗

[X-linked hypophosphatemic rickets due to mutations in PHEX: Clinical and evolutionary variability].Semantic proximity Read ↗

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