Katsuhiko Amano

Two postnatal mouse models with Pth1r deletion reproduce limb phenotype for Blomstrand chondrodysplasia

Blomstrand chondrodysplasia (BOCD) is a lethal autosomal recessive disorder characterized by skeletal and facial deformity and caused by loss-of-function variants in the parathyroid hormone 1 receptor gene ( PTH1R ). Because BOCD results in embryonic lethality in humans, animal m...