Adelaide Research & Scholarship
Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/100626
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| Type: | Journal article |
| Title: | Ectrodactyly and lethal pulmonary acinar dysplasia associated with homozygous FGFR2 mutations identified by exome sequencing |
| Author: | Barnett, C. Nataren, N. Klingler-Hoffmann, M. Schwarz, Q. Chong, C. Lee, Y. Bruno, D. Lipsett, J. Mcphee, A. Schreiber, A. Feng, J. Hahn, C. Scott, H. |
| Citation: | Human Mutation, 2016; 37(9):955-963 |
| Publisher: | Wiley |
| Issue Date: | 2016 |
| ISSN: | 1059-7794 1098-1004 |
| Statement of Responsibility: | Christopher P. Barnett, Nathalie J. Nataren, Manuela Klingler-Hoffmann, Quenten Schwarz, Chan-Eng Chong, Young K. Lee, Damien L. Bruno, Jill Lipsett, Andrew J. McPhee, Andreas W. Schreiber, Jinghua Feng, Christopher N. Hahn, and Hamish S. Scott |
| Abstract: | Abstract not available |
| Keywords: | FGFR2; ectrodactyly; acinar dysplasia; whole-exome sequencing |
| Description: | First published: 11 July 2016 |
| Rights: | © 2016 Wiley Periodicals, Inc. |
| DOI: | 10.1002/humu.23032 |
| Grant ID: | http://purl.org/au-research/grants/nhmrc/1023059 |
| Appears in Collections: | Aurora harvest 3 IPAS publications |
Files in This Item:
| File | Description | Size | Format | |
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| hdl_100626.pdf | Accepted version | 1.43 MB | Adobe PDF | View/Open |
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