Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant

BACKGROUND: The genetic architecture of hearing impairment in Finland is largely unknown. Here, we investigated two Finnish families with autosomal recessive nonsyndromic symmetrical moderate‐to‐severe hearing impairment. METHODS: Exome and custom capture next‐generation sequencing were used to dete...

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Detalles Bibliográficos
Autores principales: Bharadwaj, Thashi, Schrauwen, Isabelle, Acharya, Anushree, Nouel‐Saied, Liz M., Väisänen, Marja‐Leena, Kraatari, Minna, Rahikkala, Elisa, Jarvela, Irma, Kotimäki, Jouko, Leal, Suzanne M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8922966/
https://www.ncbi.nlm.nih.gov/pubmed/35150090
http://dx.doi.org/10.1002/mgg3.1866

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8922966/
https://www.ncbi.nlm.nih.gov/pubmed/35150090
http://dx.doi.org/10.1002/mgg3.1866

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