Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome.

Micheal, S., Khan, M.I., Akhtar, F., Weiss, M.M., Islam, F., Ali, M., Qamar, R. Maugeri, A. and den Hollander, A.I.Molecular Vision, 18:1918-1926 (2012).