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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
Statement of
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.
RMID: 0030033926
DOI: 10.1002/humu.22832
Appears in Collections:Paediatrics publications

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