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Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance
Sinoatrial node dysfunction and deafness (SANDD) syndrome is rare and characterized by a low heart beat and severe-to-profound deafness. Additional features include fatigue, dizziness, and episodic syncope. The sinoatrial node (SAN) drives heart automaticity and continuously regulates heart rate. Th...
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| Опубликовано в: : | J Hum Genet |
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| Главные авторы: | , , , , , , , , , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2018
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6561484/ https://ncbi.nlm.nih.gov/pubmed/30498240 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s10038-018-0542-8 |
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