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TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant.
Reyna-Fabián ME, Alcántara-Ortigoza MA, Hernández-Martínez NL, Berumen J, Jiménez-García R, Gómez-Garza G, González-Del Angel A. Reyna-Fabián ME, et al. Nefrologia (Engl Ed). 2020 Jan-Feb;40(1):91-98. doi: 10.1016/j.nefro.2019.03.003. Epub 2019 Jun 5. Nefrologia (Engl Ed). 2020. PMID: 31176519 Free article. English, Spanish.
Association of interactions among the IRF6 gene, the 8q24 region, and maternal folic acid intake with non-syndromic cleft lip/palate in Mexican Mestizos.
Velázquez-Aragón JA, Alcántara-Ortigoza MA, Estandia-Ortega B, Reyna-Fabián ME, Cruz-Fuentes C, Villagómez S, González-del Angel A. Velázquez-Aragón JA, et al. Am J Med Genet A. 2012 Dec;158A(12):3207-10. doi: 10.1002/ajmg.a.35641. Epub 2012 Nov 20. Am J Med Genet A. 2012. PMID: 23169698 No abstract available.
65 results