AIMC Topic: Achondroplasia
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Deeplasia: deep learning for bone age assessment validated on skeletal dysplasias.
Pediatric radiology
Nov 13, 2023
BACKGROUND: Skeletal dysplasias collectively affect a large number of patients worldwide. Most of these disorders cause growth anomalies. Hence, evaluating skeletal maturity via the determination of bone age (BA) is a useful tool. Moreover, consecuti...
Embryonic cranial cartilage defects in the Fgfr3 mouse model of achondroplasia.
Anatomical record (Hoboken, N.J. : 2007)
Sep 25, 2023
Achondroplasia, the most common chondrodysplasia in humans, is caused by one of two gain of function mutations localized in the transmembrane domain of fibroblast growth factor receptor 3 (FGFR3) leading to constitutive activation of FGFR3 and subseq...
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