Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome

OBJECTIVE(S): Jervell and Lange–Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. MATERIALS AND METHODS: Here we present a 3.5-year-old female patient, an offspring of cons...

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Detalles Bibliográficos
Publicado en:Iran J Basic Med Sci
Main Authors: Amirian, Azam, Dalili, Seyed Mohammad, Zafari, Zahra, Saber, Siamak, Karimipoor, Morteza, Akbari, Vahid, Fazelifar, Amir Farjam, Zeinali, Sirous
Formato: Artigo
Idioma:Inglês
Publicado: Mashhad University of Medical Sciences 2018
Assuntos:
Short Communication
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5776430/
https://ncbi.nlm.nih.gov/pubmed/29372044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.22038/IJBMS.2017.23207.5908
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