Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia

American Journal of Human Genetics

Volumn 72, Issue 2, 2003, Pages 408-418

  Paznekas, William A ^a   Boyadjiev, Simeon A ^a   Shapiro, Robert E ^b   Daniels, Otto ^c   Wollnik, Bernd ^d   Keegan, Catherine E ^e   Innis, Jeffrey W ^e   Dinulos, Mary Beth ^f   Christian, Cathy ^g   Hannibal, Mark C ^h   Jabs, Ethylin Wang ^a,i  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF VERMONT   (United States)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ISTANBUL UNIVERSITY   (Turkey)

^e UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^f DARTMOUTH HITCHCOCK MEDICAL CENTER   (United States)

^g KAISER PERMANENTE   (United States)

^h UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

ⁱ JOHNS HOPKINS HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 43; ION CHANNEL;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOMAL LOCALIZATION; CHROMOSOME 6Q; CLINICAL ARTICLE; CONDUCTION DEAFNESS; CRANIOFACIAL MALFORMATION; GAP JUNCTION; GENE DUPLICATION; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; ION CONDUCTANCE; LIMB MALFORMATION; MISSENSE MUTATION; NERVE DEGENERATION; OCULODENTODIGITAL SYNDROME; PATHOGENESIS; PHENOTYPE; PLEIOTROPY; PRIORITY JOURNAL; PROMOTER REGION; SIGNAL TRANSDUCTION; SPASTIC PARAPLEGIA; SYNDACTYLY;

ANIMALIA;

EID: 0037320927     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/346090     Document Type: Article

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