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Article

Timothy syndrome-like condition with syndactyly but without prolongation of the QT interval.

American journal of medical genetics. Part A - 1 Jul 2018

Kosaki Rika, Ono Hiroshi, Terashima Hiroshi, Kosaki Kenjiro

Abstract excerpt

Timothy syndrome is characterized by a unique combination of a prolongation of the corrected QT interval of the electrocardiogram and bilateral cutaneous syndactyly of the fingers and the toes and is caused by heterozygous mutations in CACNA1C, a gene encoding a calcium channel. After the discovery of the CACNA1C gene as the causative gene for Timothy syndrome, patients with CACNA1C mutations with QT prolongation...

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Identifiers

PMID: 29736926
DOI: 10.1002/ajmg.a.38833

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Timothy syndrome-like condition with syndactyly but without prolongation of the QT interval.PMID 29736926Read ↗

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A novel CACNA1C mutation identified in a patient with Timothy syndrome without syndactyly exerts both marked loss- and gain-of-function effectsSemantic proximity Read ↗

Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2).Semantic proximity Read ↗

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CACNA1C-Related Channelopathies.Semantic proximity Read ↗

Increased CaV1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly.Semantic proximity Read ↗

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