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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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| Published in: | Orphanet J Rare Dis |
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| Main Authors: | , , , , , , , , , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
BioMed Central
2018
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| Subjects: | |
| 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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