Literature DB >> 10821562

Cracking the auditory genetic code: part II. Syndromic hereditary hearing impairment.

C J Tseng1, A K Lalwani.   

Abstract

OBJECTIVE: The application of molecular genetic techniques to the study of hereditary hearing impairment has contributed significantly to our understanding of auditory physiology and disease processes. This article reviews the current state of our knowledge regarding the genes associated with syndromic hereditary hearing impairment. DATA SOURCES: Data were obtained from the Medline database and the internet. STUDY SELECTION: Articles relevant to genetics of syndromic deafness were selected. DATA EXTRACTION: Data pertaining to phenotypes, location of genes, identification of genes, and implications for hearing were extracted.
CONCLUSION: Significant progress has been made in understanding the molecular pathogenesis of deafness.

Entities:  

Mesh:

Year:  2000        PMID: 10821562     DOI: 10.1016/s0196-0709(00)80058-7

Source DB:  PubMed          Journal:  Am J Otol        ISSN: 0192-9763


  2 in total

1.  Case Report: Exome Sequencing Identified Variants in Three Candidate Genes From Two Families With Hearing Loss, Onychodystrophy, and Epilepsy.

Authors:  Yuan Li; Jianjun Xiong; Yi Zhang; Lin Xu; Jianyun Liu; Tao Cai
Journal:  Front Genet       Date:  2021-11-29       Impact factor: 4.599

2.  Familial Alström syndrome: a rare cause of bilateral progressive hearing loss.

Authors:  Fayez Bahmad; Carolina Sousa Alves Costa; Marina Santos Teixeira; Jairo de Barros Filho; Lucas Moura Viana; Jan Marshall
Journal:  Braz J Otorhinolaryngol       Date:  2014-04
  2 in total

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