Fuwai Yunnan Cardiovascular Hospital

A novel JAG1 variant causing familial Alagille syndrome

Alagille syndrome (ALGS) is a rare autosomal dominant multisystem disorder typically caused by pathogenic variants in JAG1 and NOTCH2, accompanied with a wide range of clinical variability. Currently, new pathogenic variants in JAG1 and NOTCH2 have been continuously reported. Exo...