Novel SUZ12 mutations in Weaver-like syndrome.

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Title: Novel SUZ12 mutations in Weaver-like syndrome.
Authors: Imagawa E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Albuquerque EVA; Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil., Isidor B; Service de Génétique Médicale, Hôpital Hôtel-Dieu, Nantes, France., Mitsuhashi S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Boguszewski MCS; Department of Pediatrics, Federal University of Paraná, Curitiba, Brazil., Boguszewski CL; Department of Internal Medicine, Endocrine Division (SEMPR), Federal University of Paraná, Curitiba, Brazil., Lerario AM; Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.; Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan, Ann Arbor, Michigan., Funari MA; Laboratorio de Hormonios e Genetica Molecular (LIM/42), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil., Jorge AAL; Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Source: Clinical genetics [Clin Genet] 2018 Nov; Vol. 94 (5), pp. 461-466. Date of Electronic Publication: 2018 Aug 06.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Novel SUZ12 mutations in Weaver-like syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Imagawa+E%22">Imagawa E</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Albuquerque+EVA%22">Albuquerque EVA</searchLink>; Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Isidor+B%22">Isidor B</searchLink>; Service de Génétique Médicale, Hôpital Hôtel-Dieu, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Mitsuhashi+S%22">Mitsuhashi S</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Mizuguchi+T%22">Mizuguchi T</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Miyatake+S%22">Miyatake S</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Takata+A%22">Takata A</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Miyake+N%22">Miyake N</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Boguszewski+MCS%22">Boguszewski MCS</searchLink>; Department of Pediatrics, Federal University of Paraná, Curitiba, Brazil.<br /><searchLink fieldCode="AU" term="%22Boguszewski+CL%22">Boguszewski CL</searchLink>; Department of Internal Medicine, Endocrine Division (SEMPR), Federal University of Paraná, Curitiba, Brazil.<br /><searchLink fieldCode="AU" term="%22Lerario+AM%22">Lerario AM</searchLink>; Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.; Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan, Ann Arbor, Michigan.<br /><searchLink fieldCode="AU" term="%22Funari+MA%22">Funari MA</searchLink>; Laboratorio de Hormonios e Genetica Molecular (LIM/42), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Jorge+AAL%22">Jorge AAL</searchLink>; Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Matsumoto+N%22">Matsumoto N</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Munksgaard%22">Munksgaard </searchLink><i>Country of Publication: </i>Denmark <i>NLM ID: </i>0253664 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1399-0004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200099163%22">00099163 </searchLink><i>NLM ISO Abbreviation: </i>Clin Genet <i>Subsets: </i>MEDLINE
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