Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome-Reference-Cited by-同舟云学术

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Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome

Published:2012-06 Issue:6 Volume:76 Page:832-836
ISSN:0165-5876
Container-title:International Journal of Pediatric Otorhinolaryngology
language:en
Short-container-title:International Journal of Pediatric Otorhinolaryngology

Author:

Said Mariem Ben,Dhouib Houria,BenZina Zeineb,Ghorbel AbdelMoneem,Moreno Felipe,Masmoudi Saber,Ayadi Hammadi,Hmani-Aifa Mounira

Publisher

Elsevier BV

Subject

Otorhinolaryngology,General Medicine,Pediatrics, Perinatology and Child Health

Reference20 articles.

1. Genetic epidemiology of hearing impairment;Morton;Ann. N. Y. Acad. Sci.,1991

2. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness;Kelsell;Nature,1997

3. A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q;Guilford;Nat. Genet.,1994

4. Mutations in GJB2 GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment;Samanich;Am. J. Med. Genet. A,2007

5. Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients;Dalamon;Hear Res.,2005

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1. 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;2022-01-08

2. Hearing Impairment in South Africa and the Lessons Learned for Planetary Health Genomics: A Systematic Review;OMICS: A Journal of Integrative Biology;2022-01-01

3. Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges;Human Genetics;2021-07-15

4. Targeted sequencing of CDH23 and GJB2 genes in an Iranian pedigree with Usher syndrome and non-syndromic hearing loss;Gene Reports;2021-06

5. Reclassification of Whole Exome Sequencing-derived Genetic Variants in Pendred Syndrome with ACMG/AMP Standards;Global Medical Genetics;2021-03-10

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