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[A case of Noonan Syndrome with coeliac disease due to SOS1 mutation].
Carcavilla Urquí A, Santomé Collazo JL, Barrio Castellanos R, Ezquieta Zubicaray B. Carcavilla Urquí A, et al. Among authors: santome collazo jl. Med Clin (Barc). 2011 Nov 26;137(14):666-7. doi: 10.1016/j.medcli.2011.03.004. Epub 2011 Apr 27. Med Clin (Barc). 2011. PMID: 21524768 Spanish. No abstract available.
First Reported Case of Fabry Disease Caused by a Somatic Mosaicism in the GLA Gene.
Barriales-Villa R, Ochoa JP, Santomé-Collazo JL, Mosquera-Reboredo J, Cao-Vilariño M, Monserrat L. Barriales-Villa R, et al. Among authors: santome collazo jl. Rev Esp Cardiol (Engl Ed). 2019 Jul;72(7):585-587. doi: 10.1016/j.rec.2018.06.013. Epub 2018 Jul 18. Rev Esp Cardiol (Engl Ed). 2019. PMID: 30029973 English, Spanish. No abstract available.