Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

Harry C. Dietz, Carry R. Cutting, Reed E. Pyeritz, Cheryl L. Maslen, Lynn Y. Sakai, Glen M. Corson, Erik G. Puffenberger, Ada Hamosh, Elizabeth J. Nanthakumar, Sheila M. Curristin, Gail Stetten, Deborah A. Meyers, Clair A. Francomano

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Medicine & Life Sciences