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首页> International journal of pediatric otorhinolaryngology> Early audiological phenotype in patients with mutations in the USH2A gene.

Early audiological phenotype in patients with mutations in the USH2A gene.

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作者： T G,Markova ^[1] ; M R,Lalayants ^[1] ; N N,Alekseeva ^[1] ; O P,Ryzhkova ^[2] ; O L,Shatokhina ^[2] ; N M,Galeeva ^[2] ; E A,Bliznetz ^[2] ; M E,Weener ^[3] ; O A,Belov ^[4] ; S S,Chibisova ^[1] ; A V,Polyakov ^[2] ; G A,Tavartkiladze ^[5]

作者单位： National Research Centre for Audiology and Hearing Rehabilitation, Moscow, 117513, Russia; Russian Medical Academy of Continuing Professional Education, Moscow, 125993, Russia. ^[1] Research Centre for Medical Genetics, Moscow, 115478, Russia. ^[2] CRO LLC «Oftalmic», Moscow, 125167, Russia. ^[3] National Research Centre for Audiology and Hearing Rehabilitation, Moscow, 117513, Russia. ^[4] National Research Centre for Audiology and Hearing Rehabilitation, Moscow, 117513, Russia; Russian Medical Academy of Continuing Professional Education, Moscow, 125993, Russia. Electronic address: gtavartkiladze@gmail.com. ^[5]

关键词 Congenital mild-to-moderate nonsyndromic sensorineural hearing loss GJB2 Retinitis pigmentosa STRC genes USH2A Universal newborn hearing screening Usher syndrome type II

主题词测听法(Audiometry);细胞外基质蛋白质类(Extracellular Matrix Proteins);听觉丧失, 感音神经性(Hearing Loss, Sensorineural);人类(Humans);婴儿(Infant);胞间信号肽类和蛋白质类(Intercellular Signaling Peptides and Proteins);突变(Mutation);表型(Phenotype)

DOI 10.1016/j.ijporl.2022.111140

PMID 35452909

发布时间 2022-05-31

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International journal of pediatric otorhinolaryngology

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