Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly

• Published in: Journal of medical genetics Vol. 41; no. 1; pp. 60 - 67
• Main Authors: Richardson, R, Donnai, D, Meire, F, Dixon, M J
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01-01-2004; BMJ; BMJ Publishing Group LTD; BMJ Group
• Subjects: Abnormalities, Multiple - genetics; Amino Acid Sequence - genetics; Animals; Biological and medical sciences; Cattle; Cloning; connexin 43; Connexin 43 - chemistry; Connexin 43 - genetics; Connexin 43 - physiology; Craniofacial Abnormalities - genetics; Cricetinae; Diseases of the osteoarticular system; Embryo, Mammalian - chemistry; Embryo, Mammalian - metabolism; Eye Abnormalities - genetics; Fingers - abnormalities; Gene Expression Regulation, Developmental - genetics; Gene Expression Regulation, Developmental - physiology; Genetic testing; Genotype & phenotype; Gja1; Humans; Letter to JMG; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical sciences; Mice; Molecular Sequence Data; Mutation; Mutation, Missense - genetics; oculodentodigital syndrome; ODD; Phenotype; Proteins; Rats; Sequence Alignment; Syndactyly - genetics; Syndrome; Tooth Abnormalities - genetics; Oculodentodigital dysplasia; Stomatology; Diseases of the osteoarticular system; Finger; Dysostosis; Gene expression; Genetic disease; Eye disease; Phenotype; Disease of the hand; Malformation; Syndactyly; Upper limb; Osteochondrodysplasia
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.2003.012005