Background: Recently, in our clinical work, we discovered a case of abnormal bone metabolism in children resulting from an inactivated mutation of the ENPP1 gene. Through this discovery, we ...

In this report, we review the neurovascular manifestations of four heritable connective tissue disorders: Ehlers-Danlos syndrome, Marfan's syndrome, osteogenesis imperfecta, and pseudoxanthoma ...

Ectopic calcification disorders, including Generalized Arterial Calcification of Infancy (GACI) and Pseudoxanthoma Elasticum are rare but impactful on individuals, healthcare and society, with ...