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

1 Dec 2018

Abstract excerpt

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 immittance, and otoacoustic emissions (OAE) testing. The genotypes of COL4A5 and the pathogenic variants were...

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PMID: 30577881
DOI: 10.1186/s13023-018-0974-4

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