Structural, Functional, and Clinical Characterization of a NovelPTPN11Mutation Cluster Underlying Noonan Syndrome-Reference-Cited by-同舟云学术

Structural, Functional, and Clinical Characterization of a NovelPTPN11Mutation Cluster Underlying Noonan Syndrome

Published:2017-02-07 Issue:4 Volume:38 Page:451-459
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Pannone Luca¹²³,Bocchinfuso Gianfranco⁴,Flex Elisabetta²,Rossi Cesare⁵,Baldassarre Giuseppina⁶,Lissewski Christina⁷,Pantaleoni Francesca¹,Consoli Federica⁸,Lepri Francesca¹,Magliozzi Monia¹⁸,Anselmi Massimiliano⁴,Delle Vigne Silvia²,Sorge Giovanni⁹,Karaer Kadri¹⁰,Cuturilo Goran¹¹¹²,Sartorio Alessandro¹³¹⁴,Tinschert Sigrid¹⁵,Accadia Maria⁸,Digilio Maria C.¹,Zampino Giuseppe¹⁶,De Luca Alessandro⁸,Cavé Hélène¹⁷¹⁸,Zenker Martin⁷,Gelb Bruce D.¹⁹,Dallapiccola Bruno¹,Stella Lorenzo⁴,Ferrero Giovanni B.⁶,Martinelli Simone²,Tartaglia Marco¹

Affiliation:

1. Genetics and Rare Diseases Research Division; Ospedale Pediatrico Bambino Gesù; IRCCS; Rome Italy

2. Dipartimento di Ematologia; Oncologia e Medicina Molecolare; Istituto Superiore di Sanità; Rome Italy

3. Dipartimento di Medicina Sperimentale; Sapienza Università di Roma; Rome Italy

4. Dipartimento di Scienze e Tecnologie Chimiche; Università di Roma Tor Vergata; Rome Italy

5. Genetica Medica; Policlinico S. Orsola-Malpighi; Bologna Italy

6. Department of Pediatric and Public Health Sciences; University of Torino; Torino Italy

7. Institute of Human Genetics; University Hospital of Magdeburg; Otto-von-Guericke-University; Magdeburg Germany

8. Ospedale Casa Sollievo della Sofferenza, IRCCS; San Giovanni Rotondo Italy

9. Unità Operativa Complessa di Clinica Pediatrica; Dipartimento di Medicina Clinica e Sperimentale; Università di Catania; Catania Italy

10. Dr. Ersin Arslan Research and Training Hospital; Department of Medical Genetics; Gaziantep Turkey

11. Faculty of Medicine; University of Belgrade; Belgrade Serbia

12. University Children's Hospital; Belgrade Serbia

13. Istituto Auxologico Italiano; Experimental Laboratory for Auxo-Endocrinological Research; Milan and Verbania Italy

14. Istituto Auxologico Italiano; Division of Auxology; Verbania Italy

15. Institute of Clinical Genetics; Technical University of Dresden; Dresden Germany

16. Istituto di Clinica Pediatrica; Università Cattolica del Sacro Cuore; Rome Italy

17. Département de Génétique; Hôpital Robert Debré; Paris France

18. INSERM UMR_S1131; Institut Universitaire d'Hématologie; Université Paris Diderot; Paris-Sorbonne-Cité Paris France

19. Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences; Icahn School of Medicine at Mount Sinai; New York City New York

Funder

Fondazione Telethon

Associazione Italiana per la Ricerca sul Cancro

Ministero della Salute

ERA-Net for Research Programmes on Rare Diseases

Ministero dell’Istruzione, dell’Università e della Ricerca

Fondazione Umberto Veronesi

Associazione Italiana Sindrome di Costello e cardiofaciocutanea

Publisher

Wiley

Subject

Genetics (clinical),Genetics