GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants-Reference-Cited by-同舟云学术

GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants

Published:2018-04 Issue: Volume:107 Page:121-126
ISSN:0165-5876
Container-title:International Journal of Pediatric Otorhinolaryngology
language:en
Short-container-title:International Journal of Pediatric Otorhinolaryngology

Author:

Koohiyan Mahbobeh^ORCID,Hashemzadeh-Chaleshtori Morteza,Salehi Mansoor,Abtahi Hamidreza,Reiisi Somayeh,Pourreza Mohammad Reza,Noori-Daloii Mohammad Reza,Tabatabaiefar Mohammad Amin

Funder

Isfahan University of Medical Sciences

Iranian National Science Foundation

Publisher

Elsevier BV

Subject

Otorhinolaryngology,General Medicine,Pediatrics, Perinatology, and Child Health

Reference43 articles.

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2. A common founder for the 35delG GJB2gene mutation in connexin 26 hearing impairment;Van Laer;J. Med. Genet.,2001

3. Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT;Lerer;Am. J. Med. Genet.,2000

4. Prevalent connexin 26 gene (GJB2) mutations in Japanese;Abe;J. Med. Genet.,2000

5. Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India;RamShankar;J. Med. Genet.,2003

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2. An update on autosomal recessive hearing loss and loci involved in it;Indian Journal of Otology;2022

3. GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran;Journal of Clinical Laboratory Analysis;2021-09-28

4. Whole-Exome Sequencing Identifies a Recurrent Small In-Frame Deletion in MYO15A Causing Autosomal Recessive Nonsyndromic Hearing Loss in 3 Iranian Pedigrees;Laboratory Medicine;2021-08-13

5. Molecular diagnosis of SLC26A4-related hereditary hearing loss in a group of patients from two provinces of Iran;Intractable & Rare Diseases Research;2021-02-28