Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia

European Journal of Dermatology

Volumn 15, Issue 2, 2005, Pages 75-79

  Kellermayer, Richard ^a   Keller, Matthew ^b   Ratajczak, Paulina ^b   Richardson, Elizabeth ^b   Harangi, Ferenc ^c   Mérei, Eszter ^a   Melegh, Béla ^a   Kosztolányi, György ^a,d   Richard, Gabriele ^b  

^a UNIVERSITY OF PÉCS   (Hungary)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

^c Baranya County Hospital   (Hungary)

^d UNIVERSITY OF PÉCS   (Hungary)

Author keywords

Clouston syndrome; Connexin 26; Connexin 43; Gypsy; Palmoplantar keratoderma

Indexed keywords

CONNEXIN 26; CONNEXIN 30; CONNEXIN 30.3; CONNEXIN 31; CONNEXIN 43; ETRETINATE; GAP JUNCTION PROTEIN; ISOTRETINOIN; KERATOLYTIC AGENT; LACTIC ACID; UNCLASSIFIED DRUG; UREA;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CLINICAL FEATURE; CLOUSTON SYNDROME; ECTODERMAL DYSPLASIA; EVOKED BRAIN STEM AUDITORY RESPONSE; FEMALE; GENE MUTATION; GIPSY; HEARING LOSS; HIDROTIC ECTODERMAL DYSPLASIA; HUMAN; KERATITIS; KERATOSIS PALMOPLANTARIS; LIVER DYSFUNCTION; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OCULODENTODIGITAL SYNDROME; PERCEPTION DEAFNESS; SCHOOL CHILD; SKIN BIOPSY;

CHILD; CONNEXIN 43; CONNEXINS; DNA MUTATIONAL ANALYSIS; ECTODERMAL DYSPLASIA; FEMALE; GENOTYPE; GYPSIES; HUMANS; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 15944421850     PISSN: 11671122     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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