Rare Diseases

Current bibliography for experts

"Bone Deformities" search results...

PHEX

Hypophosphatemic rickets in an Italian multicentric cohort of 24 subjects: a clinical and molecular characterisation

2025-02-06

This Italian multicentric study characterises the clinical and genetic spectrum of hypophosphatemic rickets in 24 patients, identifying pathogenic or likely pathogenic variants in PHEX, CYP27B1, and SLC34A3, including five large PHEX deletions and several novel alleles.

XLH

Bone Deformities and Kidney Failure: Coincidence of PHEX-Related Hypophosphatemic Rickets and m.3243A>G Mitochondrial Disease

2022-12-01

This article reports a rare case of coexistence of the two genetic conditions, X-linked hypophosphatemic rickets (XLH) and m.3243A>G mitochondrial disease.

PHEX

Identification of six novel variants from nine Chinese families with hypophosphatemic rickets

2022-07-01

This study highlights the dominant role of PHEX in hypophosphatemic rickets (HR) and expand the genotypic and phenotypic spectra of this disorder.

News and Events

2nd Symposium on Phenylketonuria and Screening in Metabolic Diseases 2026

The 2nd Symposium on Phenylketonuria and Screening in Metabolic Diseases (FEMETS) will be held on October 23–24, 2026.

European Conference on Human Genetics 2027

The annual ESHG 2027, European Conference on Human Genetics, will be held in Rotterdam, Netherland between 12-15 June 20...

I-PAS Academy 2026

İ-PAS Academy 2026 will be held between October 1–4, 2026, at the Hilton Dalaman Sarıgerme Resort & Spa.

All News

Gene2info provides genetic diagnoce service for 23 of rare diseases

Gene2info has an end-to-end service solution for rapid diagnosis of rare diseases via genetic testing. The solution cove...