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Article

R75Q de novo dominant mutation of GJB2 in a Chinese family with hearing loss and palmoplantar keratoderma.

International journal of pediatric otorhinolaryngology - 1 Sept 2014

Jiang Shu-juan, Di Zheng-hong, Huang Dan, Zhang Jiu-bin, Zhang Yuan-yuan, Li Shu-qin, He Rong

Abstract excerpt

OBJECTIVES: Mutations in the GJB2 gene encoding connexin 26 (Cx26) are major causes of hereditary deafness. This study aimed to characterize the mutation profiles of the GJB2 gene in a Chinese family with sensorineural hearing loss. METHODS: A Chinese family that included three individuals with sensorineural hearing loss and palmoplantar keratoderma underwent complete physical examinations, audiological...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24975403
DOI: 10.1016/j.ijporl.2014.06.008

Genes

GJB2
GJB3
GJB6
UCN

Variants

Provenance

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