Custom Next‐Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys

BACKGROUND: In the Tunisian population, the molecular analysis of hearing impairment remains based on conventional approaches, which makes the task laborious and enormously expensive. Exploration of the etiology of Hearing Impairment and the early diagnosis of causal mutations by next‐generation seq...

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Detalles Bibliográficos
Autores principales: Said, Mariem Ben, Ayed, Ikhlas Ben, Elloumi, Ines, Hasnaoui, Mehdi, Souissi, Amal, Idriss, Nabil, Aloulou, Hajer, Chabchoub, Imen, Maâlej, Bayen, Driss, Dorra, Masmoudi, Saber
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/PMC8830811/
https://www.ncbi.nlm.nih.gov/pubmed/34997822
http://dx.doi.org/10.1002/mgg3.1868

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8830811/
https://www.ncbi.nlm.nih.gov/pubmed/34997822
http://dx.doi.org/10.1002/mgg3.1868

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