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

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, acoustic i...

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Bibliographic Details
Published in:Orphanet J Rare Dis
Main Authors: Zhang, Xiao, Zhang, Yanqin, Zhang, Yanmei, Gu, Hongbo, Chen, Zhe, Ren, Lei, Lu, Xingxing, Chen, Li, Wang, Fang, Liu, Yuhe, Ding, Jie
Format: Artigo
Language:Inglês
Published: BioMed Central 2018
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Research
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6303895/
https://ncbi.nlm.nih.gov/pubmed/30577881
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0974-4
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