Timothy syndrome
Sign in to saveAlso known as long QT syndrome 8, LQT8, Long QT syndrome-syndactyly syndrome, TIMOTHY SYNDROME; TS, TS, Long QT syndrome type 8, Long Qt Syndrome With Syndactyly
autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features; the two forms are type 1 (classic) and type 2, a rare form that has material basis in mutations in a transcript variant of CACNA1C
Research
214 papers- Timothy syndrome iPSC modeling.Molecular and cellular neurosciences · 2020
- Antisense oligonucleotide therapeutic approach for Timothy syndrome.Nature · 2024
- A Natural History Study of Timothy Syndrome.Orphanet journal of rare diseases · 2024
- Update on the Molecular Genetics of Timothy Syndrome.Frontiers in pediatrics · 2021
- Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics.Expert reviews in molecular medicine · 2023
via PubMed
Wikidata facts
- Subclass of
- syndrome
Show 7 more facts
- exact match
- identifiers.org/doid/DOID:0110649
- on focus list of Wikimedia project
- WikiProject Medicine
- health specialty
- neurology
- symptoms and signs
- ventricular fibrillation
- NCI Thesaurus ID
- C142894
- genetic association
- CACNA1C
- Commons category
- Timothy syndrome
via Wikidata · CC0