Combined ADAMTS10 and ADAMTS17 inactivation exacerbates bone shortening and skin phenotypes
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Weill-Marchesani syndrome (WMS) is characterized by severe short stature, joint contractures, tight skin, heart valve and eye anomalies. WMS is caused by biallelic mutations in ADAMTS10, ADAMTS17, or LTBP2, or mono-allelic mutations in FBN1 Because bone growth... ...