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Article

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

International journal of pediatric otorhinolaryngology - 1 Jun 2022

Markova T G, Lalayants M R, Alekseeva N N, Ryzhkova O P, Shatokhina O L, Galeeva N M, Bliznetz E A, Weener M E, Belov O A, Chibisova S S, Polyakov A V, Tavartkiladze G A

Abstract excerpt

INTRODUCTION: Nowadays, due to universal newborn hearing screening (UNHS) the number of children with mild-to-moderate hearing loss diagnosed in the first year of life has increased significantly. Aside from that, identification of the genetic cause improves the genetic counselling of the families and allows to reveal possible comorbidities which may need a special approach. OBJECTIVE: To present the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35452909
DOI: 10.1016/j.ijporl.2022.111140

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