Hot cross bun sign and prominent cerebellar peduncle involvement in a patient with oculodentodigital dysplasia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-020-04569-1.pdf
Reference13 articles.
1. Brueton LA, Huson SM, Farren B, Winter RM (1990) Oculodentodigital dysplasia and type III syndactyly: separate genetic entities or disease spectrum? J Med Genet 27(3):169–175
2. Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW (2003) Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet 72(2):408–418. https://doi.org/10.1086/346090
3. Richardson R, Donnai D, Meire F, Dixon MJ (2004) Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly. J Med Genet 41(1):60–67
4. Paznekas WA, Karczeski B, Vermeer S, Lowry RB, Delatycki M, Laurence F, Koivisto PA, van Maldergem L, Boyadjiev SA, Bodurtha JN, Wang Jabs E (2009) GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. Hum Mutat 30(5):724–733. https://doi.org/10.1002/humu.20958
5. De Bock M, Kerrebrouck M, Wang N, Leybaert L (2013) Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system? Front Pharmacol 4:120. https://doi.org/10.3389/fphar.2013.00120
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1. Oculo-dento-digital dysplasia: a systematic analysis of published dental literature;BDJ Open;2023-03-29
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