Article
Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.
American journal of medical genetics. Part A - 1 Sept 2013
Cecchi Alana, Ogawa Naomi, Martinez Hugo R, Carlson Alicia, Fan Yuxin, Penny Daniel J, Guo Dong-chuan, Eisenberg Steven, Safi Hazim, Estrera Anthony, Lewis Richard A, Meyers Deborah, Milewicz Dianna M
Abstract excerpt
Mutations in FBN1 cause a range of overlapping but distinct conditions including Marfan syndrome (MFS), Weill-Marchesani syndrome (WMS), familial thoracic aortic aneurysms/dissections (FTAAD), acromicric dysplasia (AD), and geleophysic dysplasia (GD). Two forms of acromelic dysplasia, AD and GD, characterized by short stature, brachydactyly, reduced joint mobility, and characteristic facies, result from...
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