Weill-Marchesani-like syndrome caused by an FBN1 mutation with low-penetrance
Sign Up to like & getrecommendations! Published in 2021 at "Chinese Medical Journal"
DOI: 10.1097/cm9.0000000000001406
Abstract: Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by brachydactyly, short stature, joint stiffness, cardiovascular abnormalities, and eye anomalies including microspherophakia, cataracts, ectopia lentis, myopia, and secondary glaucoma. Patients with incomplete WMS signs… read more here.
Keywords: weill marchesani; marchesani like; penetrance; like syndrome ... See more keywords