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Article

[Genetic analysis of children with nonsyndromic sensorineural hearing loss due to novel mutations/deletions of STRC bialleles].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery - 7 Dec 2024

He J, Hui L, Zhang J J, Hao S J, Feng X

Abstract excerpt

Objective: To investigate the clinical and genetic characteristics of nonsyndromic sensorineural hearing loss caused by STRC biallelic variation. Methods: A child with hearing impairment who was diagnosed at Gansu Provincial Maternal and Child Health Hospital on May 2022 and was selected as the research object. Peripheral blood of the child and her parents was collected, genomic DNA was extracted. IDT The xGen...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39734283
DOI: 10.3760/cma.j.cn115330-20240222-00099

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