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Clinical lumping and molecular splitting of LEOPARD and NF1/NF1‐Noonan syndromes

2007; Wiley; Volume: 143A; Issue: 9 Linguagem: Inglês

10.1002/ajmg.a.31666

1552-4833

Anna Sárközy, Annalisa Schirinzi, Francesca Romana Lepri, Irene Bottillo, Alessandro De Luca, Antonio Pizzuti, Marco Tartaglia, M. Cristina Digilio, Bruno Dallapiccola,

Peptidase Inhibition and Analysis

American Journal of Medical Genetics Part AVolume 143A, Issue 9 p. 1009-1011 Research Letter Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes† Anna Sarkozy, Corresponding Author Anna Sarkozy a.sarkozy@css-mendel.it IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy Department of Experimental Medicine and Pathology, University “La Sapienza”, Rome, ItalyCSS-Mendel Institute, V.le Regina Margherita 261, 0198 Rome, Italy.Search for more papers by this authorAnnalisa Schirinzi, Annalisa Schirinzi IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy Department of Experimental Medicine and Pathology, University “La Sapienza”, Rome, ItalySearch for more papers by this authorFrancesca Lepri, Francesca Lepri IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy Department of Experimental Medicine and Pathology, University “La Sapienza”, Rome, ItalySearch for more papers by this authorIrene Bottillo, Irene Bottillo IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy Department of Experimental Medicine and Pathology, University “La Sapienza”, Rome, ItalySearch for more papers by this authorAlessandro De Luca, Alessandro De Luca IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy Department of Experimental Medicine and Pathology, University “La Sapienza”, Rome, ItalySearch for more papers by this authorAntonio Pizzuti, Antonio Pizzuti IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy Department of Experimental Medicine and Pathology, University “La Sapienza”, Rome, ItalySearch for more papers by this authorMarco Tartaglia, Marco Tartaglia Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanità, Rome, ItalySearch for more papers by this authorMaria Cristina Digilio, Maria Cristina Digilio Medical Genetics, Bambino Gesù Hospital, IRCCS, Rome, ItalySearch for more papers by this authorBruno Dallapiccola, Bruno Dallapiccola IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy Department of Experimental Medicine and Pathology, University “La Sapienza”, Rome, ItalySearch for more papers by this author Anna Sarkozy, Corresponding Author Anna Sarkozy a.sarkozy@css-mendel.it IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy Department of Experimental Medicine and Pathology, University “La Sapienza”, Rome, ItalyCSS-Mendel Institute, V.le Regina Margherita 261, 0198 Rome, Italy.Search for more papers by this authorAnnalisa Schirinzi, Annalisa Schirinzi IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy Department of Experimental Medicine and Pathology, University “La Sapienza”, Rome, ItalySearch for more papers by this authorFrancesca Lepri, Francesca Lepri IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy Department of Experimental Medicine and Pathology, University “La Sapienza”, Rome, ItalySearch for more papers by this authorIrene Bottillo, Irene Bottillo IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy Department of Experimental Medicine and Pathology, University “La Sapienza”, Rome, ItalySearch for more papers by this authorAlessandro De Luca, Alessandro De Luca IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy Department of Experimental Medicine and Pathology, University “La Sapienza”, Rome, ItalySearch for more papers by this authorAntonio Pizzuti, Antonio Pizzuti IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy Department of Experimental Medicine and Pathology, University “La Sapienza”, Rome, ItalySearch for more papers by this authorMarco Tartaglia, Marco Tartaglia Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanità, Rome, ItalySearch for more papers by this authorMaria Cristina Digilio, Maria Cristina Digilio Medical Genetics, Bambino Gesù Hospital, IRCCS, Rome, ItalySearch for more papers by this authorBruno Dallapiccola, Bruno Dallapiccola IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy Department of Experimental Medicine and Pathology, University “La Sapienza”, Rome, ItalySearch for more papers by this author First published: 15 March 2007 https://doi.org/10.1002/ajmg.a.31666Citations: 11 † How to cite this article: Sarkozy A, Schirinzi A, Lepri F, Bottillo I, De Luca A, Pizzuti A, Tartaglia M, Digilio MC, Dallapiccola B. 2007. Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes. Am J Med Genet Part A 143A:1009–1011. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Citing Literature Volume143A, Issue91 May 2007Pages 1009-1011 RelatedInformation