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...
Main Authors: | , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2018-12-01
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Series: | Orphanet Journal of Rare Diseases |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s13023-018-0974-4 |