Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of connexin 26

Journal of Korean Medical Science

Volumn 25, Issue 10, 2010, Pages 1539-1542

  Lee, Jae Yeol ^a   In, Sung Il ^a   Kim, Hyon J ^a   Jeong, Seon Yong ^a   Choung, Yun Hoon ^a   Kim, You Chan ^a  

^a Ajou University School of Medicine   (South Korea)

Author keywords

Connexin 26; Hearing loss; Keratoderma; Palmoplantar

Indexed keywords

CONNEXIN 26; GAP JUNCTION PROTEIN;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; FEMALE; GENETICS; HEARING IMPAIRMENT; HUMAN; MUTATION; NUCLEOTIDE SEQUENCE; PALMOPLANTAR KERATODERMA; PATHOLOGY; PEDIGREE; PRESCHOOL CHILD; SKIN;

ADULT; ALLELES; AMINO ACID SUBSTITUTION; CHILD, PRESCHOOL; CONNEXINS; DEAFNESS; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; KERATODERMA, PALMOPLANTAR; MUTATION; PEDIGREE; SKIN;

EID: 78449298180     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2010.25.10.1539     Document Type: Article

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