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Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation.

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Title: Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation.
Authors: Onesimo R; Rare Diseases Unit, Fondazione Policlinico Universitario Agostino Gemelli - IRCCS, Rome, Italy.; Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli - IRCCS, Rome, Italy., Delogu AB; Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli - IRCCS, Rome, Italy., Blandino R; Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli - IRCCS, Rome, Italy., Leoni C; Rare Diseases Unit, Fondazione Policlinico Universitario Agostino Gemelli - IRCCS, Rome, Italy.; Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli - IRCCS, Rome, Italy., Rosati J; Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, Rome, Italy., Zollino M; Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica Sacro Cuore, Rome, Italy.; Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Zampino G; Rare Diseases Unit, Fondazione Policlinico Universitario Agostino Gemelli - IRCCS, Rome, Italy.; Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli - IRCCS, Rome, Italy.; Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica Sacro Cuore, Rome, Italy.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jul; Vol. 188 (7), pp. 2184-2186. Date of Electronic Publication: 2022 Apr 04.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation.
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  Data: <searchLink fieldCode="AU" term="%22Onesimo+R%22">Onesimo R</searchLink>; Rare Diseases Unit, Fondazione Policlinico Universitario Agostino Gemelli - IRCCS, Rome, Italy.; Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli - IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Delogu+AB%22">Delogu AB</searchLink>; Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli - IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Blandino+R%22">Blandino R</searchLink>; Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli - IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Leoni+C%22">Leoni C</searchLink>; Rare Diseases Unit, Fondazione Policlinico Universitario Agostino Gemelli - IRCCS, Rome, Italy.; Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli - IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Rosati+J%22">Rosati J</searchLink>; Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Zollino+M%22">Zollino M</searchLink>; Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica Sacro Cuore, Rome, Italy.; Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Zampino+G%22">Zampino G</searchLink>; Rare Diseases Unit, Fondazione Policlinico Universitario Agostino Gemelli - IRCCS, Rome, Italy.; Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli - IRCCS, Rome, Italy.; Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica Sacro Cuore, Rome, Italy.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2022 Jul; Vol. 188 (7), pp. 2184-2186. <i>Date of Electronic Publication: </i>2022 Apr 04.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE
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        Value: 10.1002/ajmg.a.62740
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        Text: English
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              Text: 2022 Jul
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