New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma

American Journal of Medical Genetics, Part A

Volumn 149, Issue 4, 2009, Pages 685-688

  Iossa, Sandra ^a,b   Chinetti, Viviana ^a,b   Auletta, Gennaro ^a   Laria, Carla ^a   De Luca, Maria ^a   Rienzo, Monica ^a,b   Giannini, Pasquale ^a   Delfino, Mario ^a   Ciccodicola, Alfredo ^b   Marciano, Elio ^a   Franzé, Annamaria ^a,b,c  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b CNR   (Italy)

^c INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

Author keywords

Connexin 26; GJB2; Hearing loss; Palmoplantar keratoderma; Vohwinkel syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHILD; DISEASE ASSOCIATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEARING LOSS; HUMAN; MALE; MUTATIONAL ANALYSIS; PALMOPLANTAR KERATODERMA; PRESCHOOL CHILD; PRIORITY JOURNAL; PURE TONE AUDIOMETRY; SPEECH AUDIOMETRY;

AUDIOMETRY, PURE-TONE; CHILD, PRESCHOOL; CONNEXINS; FEMALE; GENES, DOMINANT; GENOTYPE; HEARING LOSS, SENSORINEURAL; HUMANS; KERATODERMA, PALMOPLANTAR; MALE; PEDIGREE; PHENOTYPE; POINT MUTATION; SYNDROME;

EID: 63749102956     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32462     Document Type: Article

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