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Crouzon syndrome: Previously unrecognized deletion, duplication, and point mutation within FGFR2 gene

1996; Wiley; Volume: 8; Issue: 4 Linguagem: Inglês

10.1002/(sici)1098-1004(1996)8

1098-1004

Daniela Steinberger, John B. Mulliken, Ulrich Müller,

Fetal and Pediatric Neurological Disorders

Human MutationVolume 8, Issue 4 p. 386-390 Mutations in Brief Crouzon syndrome: Previously unrecognized deletion, duplication, and point mutation within FGFR2 gene Daniela Steinberger, Daniela Steinberger Institut für Humangenetik, Justus-Liebig-Universität, 35392 Giessen, GermanySearch for more papers by this authorJohn B. Mulliken, John B. Mulliken Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115Search for more papers by this authorUlrich Müller, Corresponding Author Ulrich Müller Institut für Humangenetik, Justus-Liebig-Universität, 35392 Giessen, GermanyInstitut für Humangenetik, Justus-Liebig-Universität, 35392 Giessen, GermanySearch for more papers by this author Daniela Steinberger, Daniela Steinberger Institut für Humangenetik, Justus-Liebig-Universität, 35392 Giessen, GermanySearch for more papers by this authorJohn B. Mulliken, John B. Mulliken Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115Search for more papers by this authorUlrich Müller, Corresponding Author Ulrich Müller Institut für Humangenetik, Justus-Liebig-Universität, 35392 Giessen, GermanyInstitut für Humangenetik, Justus-Liebig-Universität, 35392 Giessen, GermanySearch for more papers by this author First published: 1996 https://doi.org/10.1002/(SICI)1098-1004(1996)8:4 3.0.CO;2-ZCitations: 27AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. 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Steinberger D, Mulliken JB, Müller U (1995) Predisposition for cysteine substitutions in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome. Hum Genet 96: 113–115. Wilkie AOM, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P, Malcolm S, Winter RM, Reardon W (1995) Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nature Genet 9: 165–172. Citing Literature Volume8, Issue41996Pages 386-390 ReferencesRelatedInformation