Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant.

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Serval ID
serval:BIB_3A9498DC865B
Type
Article: article from journal or magazin.
Publication sub-type
Letter (letter): Communication to the publisher.
Collection
Publications
Institution
UNIL/CHUV
Title
Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant.
Journal
Circulation. Genomic and precision medicine
Author(s)
Delinière A., Haddad C., Herrera-Siklódy C., Hermida A., Pruvot E., Bressieux-Degueldre S., Millat G., Janin A., Hermida J.S., Asatryan B., Chevalier P.
ISSN
2574-8300 (Electronic)
ISSN-L
2574-8300
Publication state
Published
Issued date
06/2023
Peer-reviewed
Oui
Volume
16
Number
3
Pages
280-282
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
Keywords
Humans, Autistic Disorder/genetics, Calcium Channels, L-Type/genetics, Long QT Syndrome/diagnosis, Long QT Syndrome/genetics, Syndactyly/diagnosis, Syndactyly/genetics, Child, Timothy syndrome, atrioventricular block, long QT syndrome, mexiletine, ranolazine, sudden death, ventricular fibrillation
OAI-PMH
oai:serval.unil.ch:BIB_3A9498DC865B
DOI
10.1161/CIRCGEN.122.004010
Pubmed
37009738
Web of science
001023584200011
Create date
11/04/2023 11:17
Last modification date
05/10/2023 6:58
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