Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health

Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health

Hearing impairment (HI) is a prevalent neurosensory condition globally, impacting 5% of the population, with over 50% of congenital cases attributed to genetic etiologies. In Tunisia, HI underdiagnosis prevails, primarily due to limited access to comprehensive clinical tools, particularly for syndro...

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Main Authors: Rahma Mkaouar, Zied Riahi, Jihene Marrakchi, Nessrine Mezzi, Lilia Romdhane, Maroua Boujemaa, Hamza Dallali, Marwa Sayeb, Saida Lahbib, Hager Jaouadi, Hela Boudabbous, Lotfi Zekri, Mariem Chargui, Olfa Messaoud, Meriem Elyounsi, Ichraf Kraoua, Anissa Zaouak, Ilhem Turki, Mourad Mokni, Sophie Boucher, Christine Petit, Fabrice Giraudet, Chiraz Mbarek, Ghazi Besbes, Soumeyya Halayem, Rim Zainine, Hamida Turki, Amel Tounsi, Crystel Bonnet, Ridha Mrad, Sonia Abdelhak, Mediha Trabelsi, Cherine Charfeddine
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-04-01
Series:Frontiers in Genetics
Subjects:
syndromic deafness (SD)
spectrum of SDs
next-generation sequencing (NGS)
early detection
under-diagnosis
Tunisia
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1384094/full

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https://www.frontiersin.org/articles/10.3389/fgene.2024.1384094/full

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