Ontology highlight
ABSTRACT:
SUBMITTER: Kubota T
PROVIDER: S-EPMC6958518 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Kubota Takuo T Adachi Masanori M Kitaoka Taichi T Hasegawa Kosei K Ohata Yasuhisa Y Fujiwara Makoto M Michigami Toshimi T Mochizuki Hiroshi H Ozono Keiichi K
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 20200109 1
Achondroplasia (ACH) is a skeletal dysplasia that presents with limb shortening, short stature, and characteristic facial configuration. ACH is caused by mutations of the <i>FGFR3</i> gene, leading to constantly activated FGFR3 and activation of its downstream intracellular signaling pathway. This results in the suppression of chondrocyte differentiation and proliferation, which in turn impairs endochondral ossification and causes short-limb short stature. ACH also causes characteristic clinical ...[more]