Adelaide Research & Scholarship
Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/98607
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| Type: | Journal article |
| Title: | High incidence of Noonan Syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotype-phenotype correlation |
| Author: | Rojnueangnit, K. Xie, J. Gomes, A. Sharp, A. Callens, T. Chen, Y. Liu, Y. Cochran, M. Abbott, M. Atkin, J. Babovic-Vuksanovic, D. Barnett, C. Crenshaw, M. Bartholomew, D. Basel, L. Bellus, G. Ben-Shachar, S. Bialer, M. Bick, D. Blumberg, B. et al. |
| Citation: | Human Mutation, 2015; 36(11):1052-1063 |
| Publisher: | Wiley |
| Issue Date: | 2015 |
| ISSN: | 1059-7794 1098-1004 |
| Statement of Responsibility: | Kitiwan Rojnueangnit ... Christopher P. Barnett ... et al. |
| Abstract: | Abstract not available |
| Keywords: | neurofibromatosis type 1; NF1; p.Arg1809; phenotype–genotype correlations; Legius syndrome |
| Description: | Article first published online: 21 AUG 2015 |
| Rights: | © 2015 The Authors. **Human Mutation published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made. |
| DOI: | 10.1002/humu.22832 |
| Published version: | http://dx.doi.org/10.1002/humu.22832 |
| Appears in Collections: | Aurora harvest 7 Paediatrics publications |
Files in This Item:
| File | Description | Size | Format | |
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| hdl_98607.pdf | Published version | 310.5 kB | Adobe PDF | View/Open |
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