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Nonsyndromic X-linked hearing loss.

Authors
 Mee Hyun Song  ;  Kyu-Yup Lee  ;  Jae Young Choi  ;  Jinwoong Bok  ;  Un-Kyung Kim 
Citation
 FRONTIERS IN BIOSCIENCE , Vol.4 : 924-933, 2012 
Journal Title
 FRONTIERS IN BIOSCIENCE 
ISSN
 1945-0494 
Issue Date
2012
Abstract
To date, 135 loci and 50 genes have been identified as causes of nonsyndromic hearing loss. Until recently, four loci (DFN2, DFN3, DFN4, and DFN6) had been implicated in nonsyndromic X-linked hearing loss; however, a new classification (DFNX1-5) has been proposed to reduce confusion in the terminology. The different types of nonsyndromic X-linked hearing loss demonstrate various clinical features in terms of the onset and progressiveness of hearing loss, pattern of audiogram, and the presence or absence of inner ear malformations. In addition to the POU3F4 gene, which was the first gene identified as causing nonsyndromic X-linked hearing loss, a second gene, PRPS1, has recently been identified to be the causative gene of DFNX1 (DFN2). This study reviews the new classification system, as well as the clinical features, molecular genetics, and developmental pathogenesis of different forms of nonsyndromic X-linked hearing loss.
Full Text
http://web.a.ebscohost.com/ehost/detail/detail?vid=2&sid=4816ffb3-f02c-44bb-91e1-477af15b1094%40sessionmgr4008&hid=4209&bdata=JnNpdGU9ZWhvc3QtbGl2ZQ%3d%3d#AN=22201925&db=mdc
DOI
10.2741/430
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Anatomy (해부학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Otorhinolaryngology (이비인후과학교실) > 1. Journal Papers
Yonsei Authors
Bok, Jin Woong(복진웅) ORCID logo https://orcid.org/0000-0003-1958-1872
Choi, Jae Young(최재영) ORCID logo https://orcid.org/0000-0001-9493-3458
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/90299
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