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Article

Timothy syndrome 1 genotype without syndactyly and major extracardiac manifestations.

American journal of medical genetics. Part A - 1 Mar 2017

Sepp Róbert, Hategan Lidia, Bácsi Attila, Cseklye Judit, Környei László, Borbás János, Széll Márta, Forster Tamás, Nagy István, Hegedűs Zoltán

Abstract excerpt

Timothy syndrome 1 (TS1) is a rare genetic disorder characterized by multisystem abnormalities including QT prolongation, congenital heart defects, facial dysmorphism, episodic hypoglycemia, and neurological symptoms. A morphological hallmark of TS1 is syndactyly, present in all cases. TS1 is caused by the canonical p.Gly406Arg mutation in the alternatively spliced exon 8A in the CACNA1C gene, encoding for the...

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PMID: 28211989
DOI: 10.1002/ajmg.a.38084

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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