A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome

作者:Machado Renato A*; Ferreira Shirlene B; Martins Luciane; Ribeiro Mariana M; Martelli Daniella R B; Coletta Ricardo D; Aguiar Marcos J B; Martelli Junior Hercilio
来源:American Journal of Medical Genetics, Part A, 2017, 173(10): 2838-2843.
DOI:10.1002/ajmg.a.38389