Combined ADAMTS10 and ADAMTS17 inactivation exacerbates bone shortening and compromises extracellular matrix formation.

• Tác giả: Suneel S Apte, Zerina Balic, Terence D Capellini, Dirk Hubmacher, Stylianos Z Karoulias, Daniel Martin, Alexander S Okamoto, Daniel Richard, Nandaraj Taye, Lauren W Wang, Belinda B Willard
• Ngôn ngữ: eng
• Ký hiệu phân loại: 141 Idealism and related systems and doctrines
• Thông tin xuất bản: United States : bioRxiv : the preprint server for biology , 2025
• Bộ sưu tập: NCBI
• ID: 218044

Tóm tắt

Weill-Marchesani syndrome (WMS) is characterized by severe short stature, short hands and feet (brachydactyly), joint contractures, tight skin, and heart valve, eye, and skin anomalies. Whereas recessive WMS is caused by mutations in