Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
Harry C. Dietz(Johns Hopkins Medicine), Carry Cutting(Johns Hopkins University), Reed E. Pyeritz(Johns Hopkins University), Cheryl L. Maslen(Shriners Hospitals for Children - Portland), Lynn Y. Sakai(Oregon Health & Science University), Glen M. Corson(Shriners Hospitals for Children - Portland), Erik G. Puffenberger(Johns Hopkins Medicine), Ada Hamosh(Johns Hopkins Medicine), Elizabeth Nanthakumar(Johns Hopkins University), S M Curristin(Johns Hopkins University), Gail Stetten(Johns Hopkins Medicine), Deborah A. Meyers(Johns Hopkins University), Clair A. Francomano(Johns Hopkins University)
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