[PROVISIONAL] Whole exome sequencing identifies a novel variant in an apoptosis-inducing factor gene associated with X-linked recessive hearing loss in a Chinese Family
Abstract We report on the genetic analysis of a Chinese family in which four male patients presented with postlingual progressive hearing loss, associated with distal muscle wasting and unsteady ataxic gait. Using whole exome sequencing, we identified a new pathogenic variant (c.1463C>T, p.Pro488...
Main Authors: | Qi Wang, Xingxing Lu, Zhiwei Ding, Yu Qi, Yuhe Liu |
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Format: | Article |
Language: | English |
Published: |
Sociedade Brasileira de Genética
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Series: | Genetics and Molecular Biology |
Subjects: | |
Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005021101&lng=en&tlng=en |
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