Genetic hearing loss: the audiologist's perspective

被引：1

作者：

Brewer, Carmen C. ^{[1
]}

King, Kelly A. ^{[1
]}

机构：

[1] NIDCD, NIH, 10 Ctr Dr,5C422, Bethesda, MD 20892 USA

来源：

HUMAN GENETICS | 2022年 / 141卷 / 3-4期

关键词：

MUTATIONS;

D O I：

10.1007/s00439-021-02360-6

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

As knowledge regarding the genetic underpinnings of hearing loss has rapidly evolved, the role of the clinician in managing the patient has expanded beyond that of defining the characteristics of the auditory phenotype. The importance and impact of a genetic diagnosis has yet to be fully realized in routine clinical care. However, audiologists are uniquely situated to be front-line healthcare providers for persons of all ages with hereditary hearing loss. Here, we discuss why the combination of genotype and phenotype are necessary for the delivery of personalized and effective clinical care for individuals with genetic hearing loss.

引用

页码：311 / 314

页数：4

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