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: martelli drb, martelli junior h.
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.