Large Deletion in KCNQ1 Identified in a Family with Jervell and Lange-Nielsen Syndrome

Long QT syndrome (LQTS) is a genetically heterogeneous disorder associated with sequence variations in more than 10 genes; in some cases, it is caused by large deletions or duplications among the main, known LQTS-associated genes. Here, we describe a 14-month-old Korean boy with congenital hearing l...

Descripción completa

Detalles Bibliográficos
Autores principales: Sung, Ji Yeon, Bae, Eun Jung, Park, Seungman, Kim, So Yeon, Hyun, Ye Jin, Park, Sung Sup, Seong, Moon-Woo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Laboratory Medicine 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4151011/
https://www.ncbi.nlm.nih.gov/pubmed/25187895
http://dx.doi.org/10.3343/alm.2014.34.5.395

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4151011/
https://www.ncbi.nlm.nih.gov/pubmed/25187895
http://dx.doi.org/10.3343/alm.2014.34.5.395

Ejemplares similares