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Deafness, digenic, GJB2/GJB3

MedGen UID:
382183
•Concept ID:
C2673761
•
Disease or Syndrome
Synonym: Deafness, Digenic, Gjb2-Gjb3
 
Genes (locations): GJB2 (13q12.11); GJB3 (1p34.3)
 
OMIM®: 121011; 220290; 603324

Recent clinical studies

Diagnosis

Unique Mutational Spectrum of the GJB2 Gene and its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G>C (p.Trp172Cys).
Posukh OL, Zytsar MV, Bady-Khoo MS, Danilchenko VY, Maslova EA, Barashkov NA, Bondar AA, Morozov IV, Maximov VN, Voevoda MI
Genes (Basel) 2019 Jun 5;10(6) doi: 10.3390/genes10060429. PMID: 31195736Free PMC Article
A Novel Pathologic Variant in OTOF in an Iranian Family Segregating Hereditary Hearing Loss.
Tabatabaiefar MA, Pourreza MR, Tahmasebi P, Saki N, Hashemzadeh Chaleshtori M, Salehi R, Mohammadi-Asl J
Otolaryngol Head Neck Surg 2018 Jun;158(6):1084-1092. Epub 2018 Feb 27 doi: 10.1177/0194599818759007. PMID: 29484972

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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