Article
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.
Molecular genetics & genomic medicine - 1 Feb 2022
Said Mariem Ben, Ayed Ikhlas Ben, Elloumi Ines, Hasnaoui Mehdi, Souissi Amal, Idriss Nabil, Aloulou Hajer, Chabchoub Imen, Maâlej Bayen, Driss Dorra, Masmoudi Saber
Abstract excerpt
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 sequencing help significantly alleviate social and economic problems. METHODS: We elaborated a custom SureSelectQXT...
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