Cargando…
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...
| Autores principales: | , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2014
|
| Materias: | |
| 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 |