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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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| Publicat a: | Iran J Basic Med Sci |
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| Autors principals: | , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Mashhad University of Medical Sciences
2018
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| Matèries: | |
| Accés en línia: | 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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