A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathwayPietro Palumbo, Marco Castori|European Journal of Human Genetics|2019Cited by 20
GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlationsMaria Luce Genovesi, Viviana Caputo, Massimo Carella et al.|Bone|2020Cited by 14