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-Reference-Cited by-同舟云学术

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

Published:2022-01-08 Issue:2 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Said Mariem Ben¹^ORCID,Ayed Ikhlas Ben¹²^ORCID,Elloumi Ines¹,Hasnaoui Mehdi³,Souissi Amal¹,Idriss Nabil³,Aloulou Hajer⁴,Chabchoub Imen⁴,Maâlej Bayen⁴,Driss Dorra¹,Masmoudi Saber¹

Affiliation:

1. Laboratory of Molecular and Cellular Screening Processes Center of Biotechnology of Sfax University of Sfax Sfax Tunisia

2. Medical Genetics Department Hedi Chaker University Hospital of Sfax Sfax Tunisia

3. Department of Otorhinolaryngology Tahar Sfar University Hospital of Mahdia Sfax Tunisia

4. Pediatric Department Hedi Chaker Hospital Sfax Tunisia

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1868

Reference53 articles.

1. Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome

2. CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness

3. Genetic Heterogeneity of Usher Syndrome: Analysis of 151 Families with Usher Type I

4. A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family

5. Consanguinity and endogamy in Northern Tunisia and its impact on non-syndromic deafness

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