Clinical features of hearing loss and genotype-phenotype correlations in Alport syndrome caused by COL4A4 or COL4A5 variants.

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Title: Clinical features of hearing loss and genotype-phenotype correlations in Alport syndrome caused by COL4A4 or COL4A5 variants.
Authors: Matsuzaki S; Division of Hearing and Balance Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.; Department of Molecular Genetics, Kitasato University School of Medicine, Kanagawa, Japan., Nara K; Division of Hearing and Balance Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan., Mutai H; Division of Hearing and Balance Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.; Department of Molecular Genetics, Kitasato University School of Medicine, Kanagawa, Japan., Katsunuma S; Department of Otolaryngology, Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan., Sakamoto H; Department of Otolaryngology, Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan., Hirose M; Department of Otolaryngology, NHO Kanazawa Medical Center, Kanazawa, Japan., Wakisaka N; Department of Otolaryngology, NHO Kanazawa Medical Center, Kanazawa, Japan., Adachi N; Department of Otolaryngology, Saitama Prefectural Children's Medical Center, Saitama, Japan., Asanuma S; Department of Otolaryngology, Saitama Prefectural Children's Medical Center, Saitama, Japan., Fujioka M; Department of Molecular Genetics, Kitasato University School of Medicine, Kanagawa, Japan., Matsunaga T; Division of Hearing and Balance Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan. tatsuo.matsunaga@kankakuki.jp.; Medical Genetics Center, NHO Tokyo Medical Center, Tokyo, Japan. tatsuo.matsunaga@kankakuki.jp.
Source: Scientific reports [Sci Rep] 2025 Dec 15; Vol. 15 (1), pp. 43803. Date of Electronic Publication: 2025 Dec 15.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:2045-2322
DOI:10.1038/s41598-025-27772-6