ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation

Valerie Cormier-Daire and colleagues report mutations in ADAMTSL2 in geleophysic dysplasia, a connective tissue disorder. The authors present evidence that ADAMTSL2 is an extracellular matrix protein regulating the bioavailability of TGF-β.