X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males

Abstract Objective To analyze the clinical audiological characteristics of X-Linked Alport syndrome (XLAS) in males and their relationships with genotypes. Methods The clinical data of 87 male patients with AS were reviewed. Hearing levels were evaluated using pure tone audiometry (PTA) testing, aco...

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Detalhes bibliográficos
Main Authors: Xiao Zhang, Yanqin Zhang, Yanmei Zhang, Hongbo Gu, Zhe Chen, Lei Ren, Xingxing Lu, Li Chen, Fang Wang, Yuhe Liu, Jie Ding
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2018-12-01
Colecção:Orphanet Journal of Rare Diseases
Assuntos:
X-linked Alport syndrome
Hearing features
Gene mutation
Acesso em linha:http://link.springer.com/article/10.1186/s13023-018-0974-4
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