Article
Cervical artery dissection expands the cardiovascular phenotype in FBN1-related Weill-Marchesani syndrome.
American journal of medical genetics. Part A - 1 Sept 2017
Newell Kelsey, Smith Wendy, Ghoshhajra Brian, Isselbacher Eric, Lin Angela, Lindsay Mark E
Abstract excerpt
Weill-Marchesani syndrome (WMS) is a rare form of acromelic dysplasia that is characterized by distinctive skeletal, ocular, and cardiovascular abnormalities. Previously described cardiac manifestations of WMS include aortic and pulmonary valve stenosis, mitral valve prolapse, mitral stenosis, and QTc prolongation. Autosomal dominant forms of WMS result from heterozygous pathogenic variants in FBN1, a gene with a...
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