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

Familial hypophosphatemic rickets caused by a large deletion in PHEX gene.

European journal of endocrinology - 1 Oct 2009

Saito Tasuku, Nishii Yutaka, Yasuda Toshiyuki, Ito Nobuaki, Suzuki Hisanori, Igarashi Takashi, Fukumoto Seiji, Fujita Toshiro

Abstract excerpt

CONTEXT: X-linked hypophosphatemic rickets/osteomalacia (XLH), autosomal dominant and recessive hypophosphatemic rickets/osteomalacia (ADHR and ARHR) share common clinical features including high fibroblast growth factor 23 (FGF23) levels. These diseases are caused by mutations in phosphate regulating endopeptidase homolog, X-linked (PHEX), FGF23, and dentin matrix acidic phosphoprotein 1 (DMP1) gene...

Read the complete abstract on PubMed

Topics

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

Share to Familial Hypophosphatemic Rickets
Share to Fibroblast Growth Factor-23

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

Share to Fibroblast Growth Factors

Share to Genes, Dominant

Share to Genes, Recessive

Share to Genetic Diseases, X-Linked

Share to PHEX Phosphate Regulating Neutral Endopeptidase

Share to SUMO-1 Protein

Source

Identifiers

PMID: 19581284
DOI: 10.1530/EJE-09-0261

Genes

FGF23
PHEX
DMP1

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

Familial hypophosphatemic rickets caused by a large deletion in PHEX gene.PMID 19581284Read ↗

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

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

Phosphate homeostasis and genetic mutations of familial 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 ↗

Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets.Semantic proximity Read ↗

Three novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic rickets.Semantic proximity Read ↗

Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets.Semantic proximity Read ↗

A New de novo Mosaic Mutation of PHEX Gene: A Case Report of a Boy with 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 ↗

X-linked hypophosphatemic rickets caused by a de novo PHEX gene variation in a family.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 ↗

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

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