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EDA mutation by exome sequencing in non-syndromic X-linked oligodontia.
Martins L, Machado RA, Araujo DS, Giovani PA, Rebouças PD, Rodrigues LP, Mofatto LS, Ribeiro MM, Coutinho LL, Puppin-Rontani RM, Coletta RD, Nociti FH Jr, Kantovitz KR. Martins L, et al. Clin Genet. 2017 Aug;92(2):227-229. doi: 10.1111/cge.12961. Epub 2017 Mar 19. Clin Genet. 2017. PMID: 28052341 No abstract available.
A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome.
Machado RA, Ferreira SB, Martins L, Ribeiro MM, Martelli DRB, Coletta RD, Aguiar MJB, Martelli-Júnior H. Machado RA, et al. Among authors: martins l. Am J Med Genet A. 2017 Oct;173(10):2838-2843. doi: 10.1002/ajmg.a.38389. Epub 2017 Aug 16. Am J Med Genet A. 2017. PMID: 28815901 No abstract available.
2,080 results