Deep neurological phenotyping in oculo-dento-digital syndrome
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/s10072-024-07331-z.pdf
Reference9 articles.
1. Laird DW (2014) Syndromic and non-syndromic disease-linked Cx43 mutations. FEBS Lett 588(8):1339–1348
2. Wiest T, Herrmann O, Stögbauer F, Grasshoff U, Enders H, Koch M et al (2006) Clinical and genetic variability of oculodentodigital dysplasia. Clin Genet 70(1):71–72
3. Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE et al (2003) Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Human Genet 72(2):408–418
4. 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
5. Loddenkemper T, Grote K, Evers S, Oelerich M, Stögbauer F (2002) Neurological manifestations of the oculodentodigital dysplasia syndrome. J Neurol 249(5):584–595
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