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Article

Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implications

12 Apr 2021

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 33840813
DOI: 10.1038/s41431-021-00881-2

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Related research

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Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implicationsPMID 33840813Read ↗

Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.Semantic proximity Read ↗

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.Semantic proximity Read ↗

Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.Semantic proximity Read ↗

Genotype-first analysis in an unselected health system-based population reveals variable phenotypic severity of<i>COL4A5</i>variantsSemantic proximity Read ↗

Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.Semantic proximity Read ↗

Nonsyndromic X-linked hearing loss.Semantic proximity Read ↗

Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locusSemantic proximity Read ↗

COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humansSemantic proximity Read ↗

Alport syndrome: clinical update.Semantic proximity Read ↗

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.Semantic proximity Read ↗

Complex Phenotypic Presentation of Syndromic Hearing Loss Deciphered as Three Separate Clinical Entities: How Genetic Testing Guides Final Diagnosis.Semantic proximity Read ↗

Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locusSemantic proximity Read ↗

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