A novel dominant and a de novo mutation in the GJB2 gene (Connexin-26) cause keratitis-ichthyosis-deafness syndrome: Implication for cochlear implantation

Otology and Neurotology

Volumn 31, Issue 2, 2010, Pages 210-215

  Arndt, Susan ^a   Aschendorff, Antje ^a   Schild, Christian ^a   Beck, Rainer ^a   Maier, Wolfgang ^a   Laszig, Roland ^a   Birkenhäger, Ralf ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Cochlear implantation; Connexin 26; GJB2 gene; Keratitis ichthyosis deafness syndrome; Novel mutation

Indexed keywords

CONNEXIN 26; GAP JUNCTION PROTEIN;

ARTICLE; CASE REPORT; FEMALE; GENETICS; HEARING AID; HEARING IMPAIRMENT; HEARING LOSS; HUMAN; ICHTHYOSIS; IMPLANTATION; INFANT; KERATITIS; MIDDLE AGED; MISSENSE MUTATION; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHOTOSENSITIVITY DISORDER; PHYSIOLOGY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCALP; SYNDROME;

COCHLEAR IMPLANTATION; CONNEXINS; DEAFNESS; DNA MUTATIONAL ANALYSIS; FEMALE; HEARING AIDS; HEARING LOSS, BILATERAL; HUMANS; ICHTHYOSIS; INFANT; KERATITIS; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; PHOTOSENSITIVITY DISORDERS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SCALP; SYNDROME;

EID: 77649106181     PISSN: 15317129     EISSN: 15374505     Source Type: Journal    
DOI: 10.1097/MAO.0b013e3181cc09cd     Document Type: Article

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