Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2)

BACKGROUND: Long-QT syndrome (LQTS) causes a prolongation of the QT-interval in the ECG leading to life threatening tachyarrhythmia and ventricular fibrillation. One atypical form of LQTS, Timothy syndrome (TS), is associated with syndactyly, immune deficiency, cognitive and neurological abnormaliti...

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Detalles Bibliográficos
Autores principales: Fröhler, Sebastian, Kieslich, Moritz, Langnick, Claudia, Feldkamp, Mirjam, Opgen-Rhein, Bernd, Berger, Felix, Will, Joachim C, Chen, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4038115/
https://www.ncbi.nlm.nih.gov/pubmed/24773605
http://dx.doi.org/10.1186/1471-2350-15-48

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4038115/
https://www.ncbi.nlm.nih.gov/pubmed/24773605
http://dx.doi.org/10.1186/1471-2350-15-48

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