Ectrodactyly and lethal pulmonary acinar dysplasia associated with homozygous FGFR2 mutations identified by exome sequencing

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.

Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/100626

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DC Field	Value	Language
dc.contributor.author	Barnett, C.	-
dc.contributor.author	Nataren, N.	-
dc.contributor.author	Klingler-Hoffmann, M.	-
dc.contributor.author	Schwarz, Q.	-
dc.contributor.author	Chong, C.	-
dc.contributor.author	Lee, Y.	-
dc.contributor.author	Bruno, D.	-
dc.contributor.author	Lipsett, J.	-
dc.contributor.author	Mcphee, A.	-
dc.contributor.author	Schreiber, A.	-
dc.contributor.author	Feng, J.	-
dc.contributor.author	Hahn, C.	-
dc.contributor.author	Scott, H.	-
dc.date.issued	2016	-
dc.identifier.citation	Human Mutation, 2016; 37(9):955-963	-
dc.identifier.issn	1059-7794	-
dc.identifier.issn	1098-1004	-
dc.identifier.uri	http://hdl.handle.net/2440/100626	-
dc.description	First published: 11 July 2016	-
dc.description.abstract	Abstract not available	-
dc.description.statementofresponsibility	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	-
dc.language.iso	en	-
dc.publisher	Wiley	-
dc.rights	© 2016 Wiley Periodicals, Inc.	-
dc.source.uri	http://dx.doi.org/10.1002/humu.23032	-
dc.subject	FGFR2; ectrodactyly; acinar dysplasia; whole-exome sequencing	-
dc.title	Ectrodactyly and lethal pulmonary acinar dysplasia associated with homozygous FGFR2 mutations identified by exome sequencing	-
dc.type	Journal article	-
dc.identifier.doi	10.1002/humu.23032	-
dc.relation.grant	http://purl.org/au-research/grants/nhmrc/1023059	-
pubs.publication-status	Published	-
dc.identifier.orcid	Barnett, C. [0000-0003-1717-3824]	-
dc.identifier.orcid	Klingler-Hoffmann, M. [0000-0003-2165-7813]	-
dc.identifier.orcid	Mcphee, A. [0000-0003-3820-5696]	-
dc.identifier.orcid	Schreiber, A. [0000-0002-9081-3405]	-
dc.identifier.orcid	Hahn, C. [0000-0001-5105-2554]	-
dc.identifier.orcid	Scott, H. [0000-0002-5813-631X]	-
Appears in Collections:	Aurora harvest 3 IPAS publications

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