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4. A novel GJA1 mutation in oculodentodigital dysplasia with progressive spastic paraplegia and sensory deficits. Furuta N; Ikeda M; Hirayanagi K; Fujita Y; Amanuma M; Okamoto K Intern Med; 2012; 51(1):93-8. PubMed ID: 22214631 [TBL] [Abstract][Full Text] [Related]
5. A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia. Vasconcellos JP; Melo MB; Schimiti RB; Bressanim NC; Costa FF; Costa VP Arch Ophthalmol; 2005 Oct; 123(10):1422-6. PubMed ID: 16219735 [TBL] [Abstract][Full Text] [Related]
6. Some oculodentodigital dysplasia-associated Cx43 mutations cause increased hemichannel activity in addition to deficient gap junction channels. Dobrowolski R; Sommershof A; Willecke K J Membr Biol; 2007 Oct; 219(1-3):9-17. PubMed ID: 17687502 [TBL] [Abstract][Full Text] [Related]
7. A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features. de la Parra DR; Zenteno JC Ophthalmic Genet; 2007 Dec; 28(4):198-202. PubMed ID: 18161618 [TBL] [Abstract]