Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort

International Journal of Audiology

Volumn 48, Issue 1, 2009, Pages 12-17

  Cama, Elona ^a,d   Melchionda, Salvatore ^b   Palladino, Teresa ^b   Carella, Massimo ^b   Santarelli, Rosamaria ^a   Genovese, Elisabetta ^c   Benettazzo, Filippo ^a   Zelante, Leopoldo ^b   Arslan, Edoardo ^a,b  

^a UNIVERSITY OF PADOVA   (Italy)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^c UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^d OSPEDALE CA FONCELLO   (Italy)

Author keywords

Autosomal recessive hearing loss; Connexin 26; Connexin 30; GJB2; GJB6

Indexed keywords

CONNEXIN 26; CONNEXIN 30;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; AUDIOGRAPHY; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CLINICAL FEATURE; COHORT ANALYSIS; DISEASE COURSE; DISEASE SEVERITY; FEMALE; FOLLOW UP; GENE DELETION; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HEARING IMPAIRMENT; HEARING LOSS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INFANT; ITALY; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NEWBORN; PRIORITY JOURNAL; RETROSPECTIVE STUDY;

ACOUSTIC IMPEDANCE TESTS; ADOLESCENT; ADULT; AGED; ALLELES; AUDIOMETRY, PURE-TONE; AUDITORY PERCEPTION; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; CONNEXINS; DISEASE PROGRESSION; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEARING LOSS, SENSORINEURAL; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; INHERITANCE PATTERNS; ITALY; MALE; MIDDLE AGED; MUTATION; OTOSCOPY; PHENOTYPE; REFLEX, ACOUSTIC; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 60749110729     PISSN: 14992027     EISSN: 17088186     Source Type: Journal    
DOI: 10.1080/14992020802400654     Document Type: Article

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