Skin changes in oculo-dento-digital dysplasia are correlated with C-terminal truncations of connexin 43

American Journal of Medical Genetics, Part A

Volumn 143, Issue 4, 2007, Pages 360-363

  Vreeburg, M ^a   De Zwart Storm, E A ^a   Schouten, M I ^a   Nellen, R G L ^a   Marcus Soekarman, D ^a   Devies, M ^b   Van Geel, M ^a   Van Steensel, M A M ^a  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b NONE

Author keywords

Connexin 43; Gap junction; Keratoderma; Oculo dento digital dysplasia

Indexed keywords

CONNEXIN 43;

ADULT; AMINO ACID SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; DISEASE ASSOCIATION; FEMALE; GAP JUNCTION; GENE; GENE DELETION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; GJA1 GENE; HETEROZYGOTE DETECTION; HUMAN; KERATOSIS PALMARIS; KERATOSIS PALMOPLANTARIS; MUTATIONAL ANALYSIS; OCULODENTODIGITAL SYNDROME; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; ADULT; CONNEXIN 43; DNA MUTATIONAL ANALYSIS; EYE ABNORMALITIES; FEMALE; HUMANS; KERATOSIS; LIMB DEFORMITIES, CONGENITAL; PHENOTYPE; SEQUENCE DELETION; SKIN ABNORMALITIES; SYNDACTYLY; TOOTH ABNORMALITIES;

EID: 33846815292     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31558     Document Type: Article

References (8)

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