Article

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

2025-01-24

Abstract excerpt

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 ADAMTS10 , ADAMTS17 , or LTBP2 , dominant WMS is caused by mutations in FBN1 (encoding fibrillin-1). Since bone growth is driven by chondrocyte proliferation and hypertrophy in th...

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Literature Corpus work: 61edd319-feed-5a9b-b377-1127d09d623c
DOI: 10.1101/2025.01.23.634616

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