Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report

BACKGROUND: Jervell and Lange-Nielsen syndrome (Online Mendelian Inheritance in Man 220400) is a rare autosomal recessive cardioauditory ion channel disorder that affects 1/200,000 to 1/1,000,000 children. It is characterized by congenital profound bilateral sensorineural hearing loss, a long QT int...

Descripción completa

Detalles Bibliográficos
Autores principales: Adadi, N., Lahrouchi, N., Bouhouch, R., Fellat, I., Amri, R., Alders, M., Sefiani, A., Bezzina, C., Ratbi, I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5376485/
https://www.ncbi.nlm.nih.gov/pubmed/28364778
http://dx.doi.org/10.1186/s13256-017-1243-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5376485/
https://www.ncbi.nlm.nih.gov/pubmed/28364778
http://dx.doi.org/10.1186/s13256-017-1243-1

Ejemplares similares