Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.

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Bibliographic Details
Title: Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.
Authors: Gazzin A; Department of Public Health and Pediatrics, University of Turin, Turin, Italy., Calvo M; Postgraduate School of Pediatrics, University of Turin, Turin, Italy., Rondot F; Department of Medical Sciences, University of Turin, Turin, Italy., Reynolds G; Postgraduate School of Pediatrics, University of Turin, Turin, Italy., Leoni C; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy., Niceta M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Dentici ML; Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Digilio MC; Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Lepri F; Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Monda E; Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli', Monaldi Hospital, Naples, Italy., Carelli I; Department of Medical Sciences, University of Turin, Turin, Italy., Trevisson E; Department of Women's and Children's Health, University of Padova, Padova, Italy.; Istituto di Ricerca Pediatrica, Fondazione Città della Speranza, Padova, Italy.; Clinical Genetics Unit, Department of Integrated Diagnostic Services, University Hospital of Padova, Padova, Italy., Scala I; Department of Maternal and Child Health, Federico II University Hospital, Naples, Italy., Mancano G; Division of Medical Genetics, Meyer Children's Hospital IRCSS, Florence, Italy., Andreucci E; Division of Medical Genetics, Meyer Children's Hospital IRCSS, Florence, Italy., Stanzial F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bozen, Bozen, Italy., Brancati F; Human Genetics, Department of Life, Human Genetics, Health and Environmental Sciences, University of L' Aquila, L' Aquila, Italy.; Human Functional Genetics Laboratory, IRCCS San Raffaele Roma, Rome, Italy., Zampino G; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy., Tarani L; Department of Maternal and Child Health, 'Sapienza' University of Rome, Rome, Italy., Paparella R; Department of Pediatrics, Medical Faculty, 'Sapienza' University of Rome, Rome, Italy., Carli D; Department of Medical Sciences, University of Turin, Turin, Italy., Villar AM; Cardiology Department, Regina Margherita Children's Hospital, Turin, Italy., Banaudi E, Massuras S; Pediatric Clinical Genetics, Regina Margherita Children Hospital, Turin, Italy., Cardaropoli S; Department of Public Health and Pediatrics, University of Turin, Turin, Italy., Daniele P; Medical Genetics Laboratory, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Airulo E; Department of Public Health and Pediatrics, University of Turin, Turin, Italy., Riggi C; Cardiology Department, Regina Margherita Children's Hospital, Turin, Italy., Calcagni G; Clinical Cardiology Unit, Division of Cardiac Surgery, Bambino Gesu Pediatric Research Hospital-IRCCS, Rome, Italy., Ferrero GB; Department of Clinical and Biological Sciences, University of Turin, Orbassano, Italy., Limongelli G; Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli', Monaldi Hospital, Naples, Italy., De Luca A; Medical Genetics Laboratory, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Mussa A; Department of Public Health and Pediatrics, University of Turin, Turin, Italy. alessandro.mussa@unito.it.; Pediatric Clinical Genetics, Regina Margherita Children Hospital, Turin, Italy. alessandro.mussa@unito.it.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Feb; Vol. 34 (2), pp. 209-215. Date of Electronic Publication: 2026 Jan 08.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1476-5438
DOI:10.1038/s41431-025-02002-9