Opinions of hearing parents about the causes of hearing impairment of their children with biallelic GJB2 mutations
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DOI: 10.1007/s12687-017-0299-3
Abstract: Hereditary hearing impairment (HI) caused by recessive GJB2 mutations is a frequent sensory disorder. The results of the molecular-based studies of HI are widely used in various genetic test systems. However, the ethical aspects are… read more here.
Keywords: opinions hearing; gjb2 mutations; hearing impairment; hearing parents ... See more keywords
Evaluation of electrocardiographic parameters in patients with hearing loss genotyped for the connexin 26 gene (GJB2) mutations.
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DOI: 10.1016/j.bjorl.2016.02.008
Abstract: INTRODUCTION Several studies have associated congenital sensorineural hearing loss in children with prolongation of the cardiac parameter QTc. The cause of this association is unknown. At the same time, mutations in GJB2, which encodes connexin… read more here.
Keywords: qtc; hearing loss; mutations gjb2; gjb2 mutations ... See more keywords
GJB2 mutations: Genotypic and phenotypic correlation in a cohort of 690 hearing-impaired patients, toward a new mutation?
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DOI: 10.1016/j.ijporl.2017.09.011
Abstract: OBJECTIVES To analyze the clinical features of hearing impairment and to search for correlations with the genotype in patients with GJB2 mutations. DESIGN Case series. SETTING Collaborative study in referral centers, institutional practice. PATIENTS A… read more here.
Keywords: hearing impaired; gjb2 mutations; 690 hearing; mutation ... See more keywords