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Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome.

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Title: Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome.
Authors: Cogliati F; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy., Straniero L; Department of Biomedical Sciences, Humanitas University, Milan, Italy.; IRCCS Humanitas Research Hospital, Milan, Italy., Rimoldi V; Department of Biomedical Sciences, Humanitas University, Milan, Italy.; IRCCS Humanitas Research Hospital, Milan, Italy., Masciadri M; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy., Perego S; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy., Rinaldi B; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Medical Genetics Unit, Milan, Italy., Milani D; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Gentilini D; Bioinformatics and Statistical Genomics Unit, IRCCS Istituto Auxologico Italiano, Cusano Milanino, Italy.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Larizza L; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy., Asselta R; Department of Biomedical Sciences, Humanitas University, Milan, Italy.; IRCCS Humanitas Research Hospital, Milan, Italy., Russo S; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy., Bedeschi MF; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Medical Genetics Unit, Milan, Italy.
Source: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [Am J Med Genet B Neuropsychiatr Genet] 2024 Sep; Vol. 195 (6), pp. e32976. Date of Electronic Publication: 2024 Feb 22.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235742 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-485X (Electronic) Linking ISSN: 15524841 NLM ISO Abbreviation: Am J Med Genet B Neuropsychiatr Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Cogliati+F%22">Cogliati F</searchLink>; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Straniero+L%22">Straniero L</searchLink>; Department of Biomedical Sciences, Humanitas University, Milan, Italy.; IRCCS Humanitas Research Hospital, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Rimoldi+V%22">Rimoldi V</searchLink>; Department of Biomedical Sciences, Humanitas University, Milan, Italy.; IRCCS Humanitas Research Hospital, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Masciadri+M%22">Masciadri M</searchLink>; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Perego+S%22">Perego S</searchLink>; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Rinaldi+B%22">Rinaldi B</searchLink>; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Medical Genetics Unit, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Milani+D%22">Milani D</searchLink>; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Gentilini+D%22">Gentilini D</searchLink>; Bioinformatics and Statistical Genomics Unit, IRCCS Istituto Auxologico Italiano, Cusano Milanino, Italy.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Larizza+L%22">Larizza L</searchLink>; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Asselta+R%22">Asselta R</searchLink>; Department of Biomedical Sciences, Humanitas University, Milan, Italy.; IRCCS Humanitas Research Hospital, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Russo+S%22">Russo S</searchLink>; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Bedeschi+MF%22">Bedeschi MF</searchLink>; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Medical Genetics Unit, Milan, Italy.
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  Data: <searchLink fieldCode="JN" term="%22101235742%22">American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics</searchLink> [Am J Med Genet B Neuropsychiatr Genet] 2024 Sep; Vol. 195 (6), pp. e32976. <i>Date of Electronic Publication: </i>2024 Feb 22.
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