Rethinking non-syndromic hearing loss and its mimics in the genomic era
Author:
Abstract
Funder
Deutsche Forschungsgemeinschaft
Publisher
Springer Science and Business Media LLC
Link
https://www.nature.com/articles/s41431-024-01579-x.pdf
Reference5 articles.
1. Vona B, Doll J, Hofrichter MAH, Haaf T. Non-syndromic hearing loss: clinical and diagnostic challenges. Medizinische Genetik. 2020;32:117–29.
2. Bitner-Glindzicz M. Hereditary deafness and phenotyping in humans. Br Med Bull. 2002;63:73–94.
3. Bademci G, Cengiz FB, Foster Ii J, Duman D, Sennaroglu L, Diaz-Horta O, et al. Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss. Sci Rep. 2016;6:31622.
4. Masuda M, Kanno A, Nara K, Mutai H, Morisada N, Iijima K, et al. Phenotype-genotype correlation in patients with typical and atypical branchio-oto-renal syndrome. Sci Rep. 2022;12:969.
5. Perry J, Redfield S, Oza A, Rouse S, Stewart C, Khela H, et al. Exome Sequencing Expands the Genetic Diagnostic Spectrum for Pediatric Hearing Loss. Laryngoscope. 2023;133:2417–24.
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