"Splice Site" search results...

This study extends the genetic spectrum of XLH and confirms the rarity and significance of synonymous PHEX variants.

CTX

Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation: A case report

2022-10-16

This study reports the clinical, biochemical, and molecular characterization of a 33-year-old female patient with cerebrotendinous xanthomatosis.

POMPE

Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening

2022-03-01

Careful physical therapy evaluation is necessary to monitor for subtle musculoskeletal signs that may reflect early muscle involvement in late onset Pompe disease patients.

POMPE

Phenotypic Implications of Pathogenic Variant Types in Pompe Disease

2021-05-11

In Pompe disease, it is crucial to figure out whether enzyme activity or the type of pathogenic genetic variant in GAA best predicts phenotypic severity. Complete genetic, cardiac, and neurological examinations are critical for newly identified Pompe disease patients.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

PHEX

A Novel Synonymous Variant of PHEX in a Patient with X-Linked Hypophosphatemia

CTX

Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation: A case report

POMPE

Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening

POMPE

Phenotypic Implications of Pathogenic Variant Types in Pompe Disease

News and Events

ASHG 2025

ESHG - Avrupa İnsan Genetiği Konferansı 2025

World Orphan Drug Congress 2025

Gene2info provides genetic diagnoce service for 23 of rare diseases