Ontology highlight
ABSTRACT:
SUBMITTER: Shazeeb MS
PROVIDER: S-EPMC5765052 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
Shazeeb Mohammed Salman MS Cox Megan K MK Gupta Anurag A Tang Wen W Singh Kuldeep K Pryce Cynthia T CT Fogle Robert R Mu Ying Y Weber William D WD Bangari Dinesh S DS Ying Xiaoyou X Sabbagh Yves Y
Scientific reports 20180111 1
Achondroplasia, the most common form of dwarfism, affects more than a quarter million people worldwide and remains an unmet medical need. Achondroplasia is caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene which results in over-activation of the receptor, interfering with normal skeletal development leading to disproportional short stature. Multiple mouse models have been generated to study achondroplasia. The characterization of these preclinical models has been primar ...[more]