Genetic Conditions > oculodentodigital dysplasia >

References

These sources were used to develop the Genetics Home Reference condition summary on oculodentodigital dysplasia.

Debeer P, Van Esch H, Huysmans C, Pijkels E, De Smet L, Van de Ven W, Devriendt K, Fryns JP. Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD). Eur J Med Genet. 2005 Oct-Dec;48(4):377-87. PubMed citation
Frasson M, Calixto N, Cronemberger S, de Aguiar RA, Leão LL, de Aguiar MJ. Oculodentodigital dysplasia: study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance. Ophthalmic Genet. 2004 Sep;25(3):227-36. Review. PubMed citation
Joss SK, Ghazawy S, Tomkins S, Ahmed M, Bradbury J, Sheridan E. Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature. Eur J Pediatr. 2008 Mar;167(3):341-5. Epub 2007 May 3. Review. PubMed citation
Laird DW. Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease. J Biol Chem. 2008 Feb 8;283(6):2997-3001. Epub 2007 Dec 18. Review. PubMed citation
Laird DW. Life cycle of connexins in health and disease. Biochem J. 2006 Mar 15;394(Pt 3):527-43. Review. PubMed citation
Loddenkemper T, Grote K, Evers S, Oelerich M, Stögbauer F. Neurological manifestations of the oculodentodigital dysplasia syndrome. J Neurol. 2002 May;249(5):584-95. PubMed citation
Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet. 2003 Feb;72(2):408-18. Epub 2002 Nov 27. PubMed citation
Shibayama J, Paznekas W, Seki A, Taffet S, Jabs EW, Delmar M, Musa H. Functional characterization of connexin43 mutations found in patients with oculodentodigital dysplasia. Circ Res. 2005 May 27;96(10):e83-91. Epub 2005 May 5. PubMed citation
van Steensel MA, Spruijt L, van der Burgt I, Bladergroen RS, Vermeer M, Steijlen PM, van Geel M. A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma. Am J Med Genet A. 2005 Jan 15;132A(2):171-4. PubMed citation
Vreeburg M, de Zwart-Storm EA, Schouten MI, Nellen RG, Marcus-Soekarman D, Devies M, van Geel M, van Steensel MA. Skin changes in oculo-dento-digital dysplasia are correlated with C-terminal truncations of connexin 43. Am J Med Genet A. 2007 Feb 15;143(4):360-3. PubMed citation
Wiest T, Herrmann O, Stögbauer F, Grasshoff U, Enders H, Koch MJ, Grond-Ginsbach C, Schwaninger M. Clinical and genetic variability of oculodentodigital dysplasia. Clin Genet. 2006 Jul;70(1):71-2. PubMed citation


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