A c.1019A > G mutation inFGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia

Journal article

Peer reviewed

G. Baynam, N. Smith and J. Goldblatt

American Journal of Medical Genetics Part A, Vol.146A(17), pp.2301-2303

2008

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Research Letter

Title: A c.1019A > G mutation inFGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia
Authors/Creators: G. Baynam (Author/Creator) - Princess Margaret Hospital for Children
N. Smith (Author/Creator)
J. Goldblatt (Author/Creator) - Princess Margaret Hospital for Children
Publication Details: American Journal of Medical Genetics Part A, Vol.146A(17), pp.2301-2303
Publisher: Wiley-Liss Inc
Identifiers: 991005542978007891
Copyright: © 2008 Wiley-Liss, Inc.
Murdoch Affiliation: Murdoch University
Language: English
Resource Type: Journal article

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Collaboration types: Domestic collaboration
Citation topics: 1 Clinical & Life Sciences; 1.132 Extracellular Matrix & Cell Differentiation; 1.132.1265 Craniosynostosis & FGFR
Web Of Science research areas: Genetics & Heredity
ESI research areas: Molecular Biology & Genetics