| 释义 |
ADAMTSbb10 ADAMTSbb10 An ADAMTSs family enzyme encoded by ADAMTS10 on chromosome 19p13.2, which is involved in skin, lens, and heart development, and strongly expressed in lung, bone, fetal chondrocytes, fetal and adult heart, and craniofacies. ADAMTS10 mutations are linked to Weill-Marchesani syndrome, an autosomal dominant or recessive connective tissue disorder characterised by proportionately short stature, brachydactyly, joint stiffness, lens and heart defects. |