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PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome.
J Clin Endocrinol Metab. 2005 Sep;90(9):5377-81. doi: 10.1210/jc.2005-0995. Epub 2005 Jun 28.
J Clin Endocrinol Metab. 2005.
PMID: 15985475
Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.
Ezquieta B, Santomé JL, Carcavilla A, Guillén-Navarro E, Pérez-Aytés A, Sánchez del Pozo J, García-Miñaur S, Castillo E, Alonso M, Vendrell T, Santana A, Maroto E, Galbis L.
Ezquieta B, et al.
Rev Esp Cardiol (Engl Ed). 2012 May;65(5):447-55. doi: 10.1016/j.recesp.2011.12.016. Epub 2012 Mar 31.
Rev Esp Cardiol (Engl Ed). 2012.
PMID: 22465605
English, Spanish.
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New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations.
Čizmárová M, Hlinková K, Bertok S, Kotnik P, Duba HC, Bertalan R, Poločková K, Košťálová Ľ, Pribilincová Z, Hlavatá A, Kovács L, Ilenčíková D.
Čizmárová M, et al.
Ann Hum Genet. 2016 Jan;80(1):50-62. doi: 10.1111/ahg.12140. Epub 2015 Nov 26.
Ann Hum Genet. 2016.
PMID: 26607044
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