Rare Diseases

Current bibliography for experts

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XLH

A Unique Mechanism of a Novel Synonymous PHEX Variant Causing X-Linked Hypophosphatemia

2022-09-28

This article presents a family with X-linked hypophosphatemia (XLH) due to a novel synonymous PHEX variant with a unique mechanism.

PHEX

Genetic and clinical profile of patients with hypophosphatemic rickets

2022-08-01

This study proposes a customized gene panel for targeted exome sequencing, which will be useful for confirming the diagnosis in most patients with hypophosphatemic rickets.

CSID

Congenital Sucrase-Isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization

2017-05-01

The novel compound heterozygote V577G/C1531W SI mutations lead to lack of SI expression in the duodenal brush border, confirming the diagnosis of CSID.

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...