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Mandibulofacial dysostosis Bauru type: Refining the phenotype.
Moura PP, Kokitsu-Nakata NM, Yatabe MS, Vendramini-Pittoli S, Hori PH, Guion-Almeida ML, Garib DG, Richieri-Costa A, Zechi-Ceide RM. Moura PP, et al. Among authors: garib dg. Am J Med Genet A. 2017 Jul;173(7):1747-1753. doi: 10.1002/ajmg.a.38257. Epub 2017 May 30. Am J Med Genet A. 2017. PMID: 28558149
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.
Gordon CT, Weaver KN, Zechi-Ceide RM, Madsen EC, Tavares AL, Oufadem M, Kurihara Y, Adameyko I, Picard A, Breton S, Pierrot S, Biosse-Duplan M, Voisin N, Masson C, Bole-Feysot C, Nitschké P, Delrue MA, Lacombe D, Guion-Almeida ML, Moura PP, Garib DG, Munnich A, Ernfors P, Hufnagel RB, Hopkin RJ, Kurihara H, Saal HM, Weaver DD, Katsanis N, Lyonnet S, Golzio C, Clouthier DE, Amiel J. Gordon CT, et al. Among authors: garib dg. Am J Hum Genet. 2015 Apr 2;96(4):519-31. doi: 10.1016/j.ajhg.2015.01.015. Epub 2015 Mar 12. Am J Hum Genet. 2015. PMID: 25772936 Free PMC article.
Authors' response.
Ruellas AC, Tonello C, Alonso N, Cevidanes LH, Gomes LR, Goncalves JR, Macron L, Lopinto J, Yatabe MS, Garib DG, Souki BQ, Coqueiro Rda S. Ruellas AC, et al. Among authors: garib dg. Am J Orthod Dentofacial Orthop. 2016 Sep;150(3):398-400. doi: 10.1016/j.ajodo.2016.06.020. Am J Orthod Dentofacial Orthop. 2016. PMID: 27585765 No abstract available.
196 results