Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

Stephen P. Robertson(MRC Human Immunology Unit), Stephen R.F. Twigg, Andrew J. Sutherland‐Smith(MRC Laboratory of Molecular Biology), Valérie Biancalana(Hôpitaux Universitaires de Strasbourg), Robert J. Gorlin(University of Minnesota), Denise Horn(Humboldt-Universität zu Berlin), Susan Kenwrick(Addenbrooke's Hospital), Chong Ae Kim(Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo), Éva Morava(University of Pecs), Ruth Newbury‐Ecob, Karen Helene Ørstavik(University of Oslo), Oliver Quarrell(Sheffield Children's Hospital), Charles E. Schwartz(Greenwood Genetic Center), Deborah Shears, Mohnish Suri(Nottingham City Hospital), John Kendrick‐Jones(MRC Laboratory of Molecular Biology), Andrew O.M. Wilkie
Nature Genetics
March 3, 2003
Cited by 429Open Access
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