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Article

Unusual clinical description of adult with Timothy syndrome, carrier of a new heterozygote mutation of CACNA1C

15 Apr 2019

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 30998997
DOI: 10.1016/j.ejmg.2019.04.005

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Related research

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Unusual clinical description of adult with Timothy syndrome, carrier of a new heterozygote mutation of CACNA1CPMID 30998997Read ↗

A Natural History Study of Timothy SyndromeSemantic proximity Read ↗

Timothy Syndrome and CACNA1C-Related Disorder: First International Language and Management Guidelines Consensus StatementSemantic proximity Read ↗

A Natural History Study of Timothy Syndrome.Semantic proximity Read ↗

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

Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing.Semantic proximity Read ↗

A novel de novo pathogenic mutation in the CACNA1A gene.Semantic proximity Read ↗

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

Expanding the Phenotypic Spectrum of CACNA1H MutationsSemantic proximity Read ↗

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

CACNA1C-Related Channelopathies.Semantic proximity Read ↗

Timothy syndrome 1 genotype without syndactyly and major extracardiac manifestations.Semantic proximity Read ↗

Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome.Semantic proximity Read ↗

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