Compound heterozygosity of the novel c.292C>T (p.R98W) and the c.35delG GJB2 mutations in postlingual, non-syndromic, sensorineural deafness

International Journal of Pediatric Otorhinolaryngology

Volumn 76, Issue 4, 2012, Pages 549-551

  Petersen, Michael B ^a   Grigoriadou, Maria ^a   Economides, John ^a   Kokotas, Haris ^a  

^a AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

Author keywords

Deafness; GJB2; Mutation; Novel; Postlingual; Sensorineural

Indexed keywords

GENOMIC DNA;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GJB2 GENE; HEARING AID; HETEROZYGOSITY; HUMAN; MEDICAL HISTORY; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; OUTCOME ASSESSMENT; PATHOGENESIS; PERCEPTION DEAFNESS; PRESCHOOL CHILD; PRIORITY JOURNAL; PURE TONE AUDIOMETRY;

AGE FACTORS; CHILD; CONNEXINS; FEMALE; HEARING LOSS, SENSORINEURAL; HETEROZYGOTE; HUMANS; MUTATION;

EID: 84859007067     PISSN: 01655876     EISSN: 18728464     Source Type: Journal    
DOI: 10.1016/j.ijporl.2012.01.014     Document Type: Article

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