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High incidence of Noonan Syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotype-phenotype correlation

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dc.contributor.authorRojnueangnit, K.
dc.contributor.authorXie, J.
dc.contributor.authorGomes, A.
dc.contributor.authorSharp, A.
dc.contributor.authorCallens, T.
dc.contributor.authorChen, Y.
dc.contributor.authorLiu, Y.
dc.contributor.authorCochran, M.
dc.contributor.authorAbbott, M.
dc.contributor.authorAtkin, J.
dc.contributor.authorBabovic-Vuksanovic, D.
dc.contributor.authorBarnett, C.
dc.contributor.authorCrenshaw, M.
dc.contributor.authorBartholomew, D.
dc.contributor.authorBasel, L.
dc.contributor.authorBellus, G.
dc.contributor.authorBen-Shachar, S.
dc.contributor.authorBialer, M.
dc.contributor.authorBick, D.
dc.contributor.authorBlumberg, B.
dc.contributor.authoret al.
dc.date.issued2015
dc.descriptionArticle first published online: 21 AUG 2015
dc.description.abstractAbstract not available
dc.description.statementofresponsibilityKitiwan Rojnueangnit ... Christopher P. Barnett ... et al.
dc.identifier.citationHuman Mutation, 2015; 36(11):1052-1063
dc.identifier.doi10.1002/humu.22832
dc.identifier.issn1059-7794
dc.identifier.issn1098-1004
dc.identifier.orcidBarnett, C. [0000-0003-1717-3824]
dc.identifier.urihttp://hdl.handle.net/2440/98607
dc.language.isoen
dc.publisherWiley
dc.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.
dc.source.urihttps://doi.org/10.1002/humu.22832
dc.subjectneurofibromatosis type 1; NF1; p.Arg1809; phenotype–genotype correlations; Legius syndrome
dc.titleHigh incidence of Noonan Syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotype-phenotype correlation
dc.typeJournal article
pubs.publication-statusPublished

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