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Muscle ultrasonography in costello syndrome: unveiling new clinical insights of a complex muscular phenotype.

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Title: Muscle ultrasonography in costello syndrome: unveiling new clinical insights of a complex muscular phenotype.
Authors: Leoni C; Center for Rare Diseases, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Largo Gemelli 8, 00168, Rome, IT, Italy. chiara.leoni@policlinicogemelli.it., Viscogliosi G; Center for Rare Diseases, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Largo Gemelli 8, 00168, Rome, IT, Italy.; Università Cattolica del Sacro Cuore, Rome, Italy., Pajalunga D; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy., Trevisan V; Center for Rare Diseases, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Largo Gemelli 8, 00168, Rome, IT, Italy., Mondelli L; Center for Rare Diseases, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Largo Gemelli 8, 00168, Rome, IT, Italy.; Università Cattolica del Sacro Cuore, Rome, Italy., Angeli ML; Department of Radiology, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy., Gullì C; Department of Radiology, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy., Tatti M; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy., Perri L; Center for Rare Diseases, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Largo Gemelli 8, 00168, Rome, IT, Italy., Bellani I; Center for Rare Diseases, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Largo Gemelli 8, 00168, Rome, IT, Italy.; School of Pediatrics, University of Milano-Bicocca, Milan, Italy., Lentini N; Section of Hygiene, University Department of Health Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy., Pastorino R; Section of Hygiene, University Department of Health Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy., Kuczynska E; Center for Rare Diseases, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Largo Gemelli 8, 00168, Rome, IT, Italy., Gervasoni J; Department of Laboratory and Infectious Diseases Sciences, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Romeo DMM; Department of Child and Adolescent Neuropsychiatry, Università Cattolica del Sacro Cuore, Rome, Italy., Pane M; Nemo Clinical Center, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy., Mercuri EM; Università Cattolica del Sacro Cuore, Rome, Italy., Cecchetti S; Core Facility, Istituto Superiore di Sanità, Rome, Italy., Carpentieri G; Core Facility, Istituto Superiore di Sanità, Rome, Italy., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Zampino G; Center for Rare Diseases, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Largo Gemelli 8, 00168, Rome, IT, Italy.; Università Cattolica del Sacro Cuore, Rome, Italy., Flex E; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2026 Apr 23; Vol. 21 (1). Date of Electronic Publication: 2026 Apr 23.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Muscle ultrasonography in costello syndrome: unveiling new clinical insights of a complex muscular phenotype.
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  Data: <searchLink fieldCode="AU" term="%22Leoni+C%22">Leoni C</searchLink>; Center for Rare Diseases, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Largo Gemelli 8, 00168, Rome, IT, Italy. chiara.leoni@policlinicogemelli.it.<br /><searchLink fieldCode="AU" term="%22Viscogliosi+G%22">Viscogliosi G</searchLink>; Center for Rare Diseases, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Largo Gemelli 8, 00168, Rome, IT, Italy.; Università Cattolica del Sacro Cuore, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Pajalunga+D%22">Pajalunga D</searchLink>; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Trevisan+V%22">Trevisan V</searchLink>; Center for Rare Diseases, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Largo Gemelli 8, 00168, Rome, IT, Italy.<br /><searchLink fieldCode="AU" term="%22Mondelli+L%22">Mondelli L</searchLink>; Center for Rare Diseases, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Largo Gemelli 8, 00168, Rome, IT, Italy.; Università Cattolica del Sacro Cuore, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Angeli+ML%22">Angeli ML</searchLink>; Department of Radiology, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Gullì+C%22">Gullì C</searchLink>; Department of Radiology, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Tatti+M%22">Tatti M</searchLink>; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Perri+L%22">Perri L</searchLink>; Center for Rare Diseases, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Largo Gemelli 8, 00168, Rome, IT, Italy.<br /><searchLink fieldCode="AU" term="%22Bellani+I%22">Bellani I</searchLink>; Center for Rare Diseases, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Largo Gemelli 8, 00168, Rome, IT, Italy.; School of Pediatrics, University of Milano-Bicocca, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Lentini+N%22">Lentini N</searchLink>; Section of Hygiene, University Department of Health Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Pastorino+R%22">Pastorino R</searchLink>; Section of Hygiene, University Department of Health Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Kuczynska+E%22">Kuczynska E</searchLink>; Center for Rare Diseases, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Largo Gemelli 8, 00168, Rome, IT, Italy.<br /><searchLink fieldCode="AU" term="%22Gervasoni+J%22">Gervasoni J</searchLink>; Department of Laboratory and Infectious Diseases Sciences, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Romeo+DMM%22">Romeo DMM</searchLink>; Department of Child and Adolescent Neuropsychiatry, Università Cattolica del Sacro Cuore, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Pane+M%22">Pane M</searchLink>; Nemo Clinical Center, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Mercuri+EM%22">Mercuri EM</searchLink>; Università Cattolica del Sacro Cuore, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Cecchetti+S%22">Cecchetti S</searchLink>; Core Facility, Istituto Superiore di Sanità, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Carpentieri+G%22">Carpentieri G</searchLink>; Core Facility, Istituto Superiore di Sanità, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Tartaglia+M%22">Tartaglia M</searchLink>; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Zampino+G%22">Zampino G</searchLink>; Center for Rare Diseases, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Largo Gemelli 8, 00168, Rome, IT, Italy.; Università Cattolica del Sacro Cuore, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Flex+E%22">Flex E</searchLink>; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
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  Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2026 Apr 23; Vol. 21 (1). <i>Date of Electronic Publication: </i>2026 Apr 23.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101266602 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1750-1172 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217501172%22">17501172 </searchLink><i>NLM ISO Abbreviation: </i>Orphanet J Rare Dis <i>Subsets: </i>MEDLINE
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