Short stature, brachydactyly and joint contractures associated with novel FBN2 variants in two families
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DOI: 10.1136/jmg-2024-110533
Abstract: Background Fibrillinopathies comprise allelic disorders with opposing phenotypes. Pathogenic variants in fibrillin-2, encoded by FBN2, have mainly been associated with congenital contractural arachnodactyly but in a few cases also with brachydactyly. Methods and results We… read more here.
Keywords: short stature; brachydactyly joint; joint contractures; fbn2 variants ... See more keywords