Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/100626
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dc.contributor.authorBarnett, C.en
dc.contributor.authorNataren, N.en
dc.contributor.authorKlingler-Hoffmann, M.en
dc.contributor.authorSchwarz, Q.en
dc.contributor.authorChong, C.en
dc.contributor.authorLee, Y.en
dc.contributor.authorBruno, D.en
dc.contributor.authorLipsett, J.en
dc.contributor.authorMcphee, A.en
dc.contributor.authorSchreiber, A.en
dc.contributor.authorFeng, J.en
dc.contributor.authorHahn, C.en
dc.contributor.authorScott, H.en
dc.date.issued2016en
dc.identifier.citationHuman Mutation, 2016; 37(9):955-963en
dc.identifier.issn1059-7794en
dc.identifier.issn1098-1004en
dc.identifier.urihttp://hdl.handle.net/2440/100626-
dc.descriptionFirst published: 11 July 2016en
dc.description.abstractAbstract not availableen
dc.description.statementofresponsibilityChristopher 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. Scotten
dc.language.isoenen
dc.publisherWileyen
dc.rights© 2016 Wiley Periodicals, Inc.en
dc.subjectFGFR2; ectrodactyly; acinar dysplasia; whole-exome sequencingen
dc.titleEctrodactyly and lethal pulmonary acinar dysplasia associated with homozygous FGFR2 mutations identified by exome sequencingen
dc.typeJournal articleen
dc.identifier.rmid0030049991en
dc.identifier.doi10.1002/humu.23032en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1023059en
dc.identifier.pubid254822-
pubs.library.collectionIPAS publicationsen
pubs.library.teamDS03en
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
dc.identifier.orcidBarnett, C. [0000-0003-1717-3824]en
dc.identifier.orcidMcphee, A. [0000-0003-3820-5696]en
dc.identifier.orcidSchreiber, A. [0000-0002-9081-3405]en
dc.identifier.orcidHahn, C. [0000-0001-5105-2554]en
dc.identifier.orcidScott, H. [0000-0002-5813-631X]en
Appears in Collections:IPAS publications

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