Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 89, Issue 3, 1999, Pages 130-136

  Cohn, Edward S ^b   Kelley, Philip M ^a  

^a BOYS TOWN NATIONAL RESEARCH HOSPITAL   (United States)

^b NONE

Author keywords

35delG; Deafness; Gap junction; Recessive; Variable hearing loss

Indexed keywords

CONNEXIN 26;

AUDIOMETRY; AUTOSOMAL RECESSIVE DISORDER; DELETION MUTANT; GENE MUTATION; GENETIC COUNSELING; HEARING LOSS; HETEROZYGOSITY; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

CHILD; CHILD, PRESCHOOL; CONNEXINS; DEAFNESS; GAP JUNCTIONS; GENES, RECESSIVE; HUMANS; MUTATION;

EID: 0033600946     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990924)89:3<130::AID-AJMG3>3.0.CO;2-M     Document Type: Review

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