Exome sequencing analysis reveals homozygous GJB2 gene mutation in a Mexican family with profound hearing loss
Background: Sensorineural hearing loss (SNHL) is a clinically and genetically heterogeneous disease. In some populations, c.365delG mutation in the GJB2 gene represents the most frequent cause of hereditary SNHL. The great diversity of mutations in the GJB2 gene worldwide highlights the participatio...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Permanyer
2017-04-01
|
| Series: | Revista Médica del Hospital General de México |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0185106316300798 |