Overview

Weill–Marchesani syndrome


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A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities. The autosomal recessive form can be caused by mutations in the ADAMTS10 gene and the similar but distinguishable autosomal dominant form by mutations in the FBN1 gene (fibrillin 1).

Subjects: Medicine and Health.


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