Evaluation of electrocardiographic parameters in patients with hearing loss genotyped for the connexin 26 gene (GJB2) mutations.
Sign Up to like & getrecommendations! Published in 2017 at "Brazilian journal of otorhinolaryngology"
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
Ichthyosis follicularis syndromes in patients with mutations in GJB2
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DOI: 10.1111/ced.15217
Abstract: Ichthyosis follicularis (IF) manifests as generalized spiny follicular projections found in syndromic diseases secondary to SREBF1 and MBTPS2 mutations. We sought the genetic cause of IF in two distinct families from a cohort of 180… read more here.
Keywords: follicularis syndromes; ichthyosis; ichthyosis follicularis; syndromes patients ... See more keywords