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Homozygous and Heterozygous Nuclear Lamin A p.R582C Mutation: Different Lipodystrophic Phenotypes in the Same Kindred.

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Title: Homozygous and Heterozygous Nuclear Lamin A p.R582C Mutation: Different Lipodystrophic Phenotypes in the Same Kindred.
Authors: Montenegro RM Jr; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies, Faculdade de Medicina, Universidade Federal do Ceará, Fortaleza, Brazil., Costa-Riquetto AD; Monogenic Diabetes Group, Genetic Endocrinology Unit (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil., Fernandes VO; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies, Faculdade de Medicina, Universidade Federal do Ceará, Fortaleza, Brazil., Montenegro APDR; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies, Faculdade de Medicina, Universidade Federal do Ceará, Fortaleza, Brazil., de Santana LS; Monogenic Diabetes Group, Genetic Endocrinology Unit (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil., Jorge AAL; Monogenic Diabetes Group, Genetic Endocrinology Unit (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil., Karbage LBAS; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies, Faculdade de Medicina, Universidade Federal do Ceará, Fortaleza, Brazil., Aguiar LB; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies, Faculdade de Medicina, Universidade Federal do Ceará, Fortaleza, Brazil., Carvalho FHC; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies, Faculdade de Medicina, Universidade Federal do Ceará, Fortaleza, Brazil., Teles MG; Monogenic Diabetes Group, Genetic Endocrinology Unit (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil., d'Alva CB; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies, Faculdade de Medicina, Universidade Federal do Ceará, Fortaleza, Brazil.
Source: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2018 Aug 20; Vol. 9, pp. 458. Date of Electronic Publication: 2018 Aug 20 (Print Publication: 2018).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Homozygous and Heterozygous Nuclear Lamin A p.R582C Mutation: Different Lipodystrophic Phenotypes in the Same Kindred.
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  Data: <searchLink fieldCode="AU" term="%22Montenegro+RM+Jr%22">Montenegro RM Jr</searchLink>; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies, Faculdade de Medicina, Universidade Federal do Ceará, Fortaleza, Brazil.<br /><searchLink fieldCode="AU" term="%22Costa-Riquetto+AD%22">Costa-Riquetto AD</searchLink>; Monogenic Diabetes Group, Genetic Endocrinology Unit (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Fernandes+VO%22">Fernandes VO</searchLink>; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies, Faculdade de Medicina, Universidade Federal do Ceará, Fortaleza, Brazil.<br /><searchLink fieldCode="AU" term="%22Montenegro+APDR%22">Montenegro APDR</searchLink>; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies, Faculdade de Medicina, Universidade Federal do Ceará, Fortaleza, Brazil.<br /><searchLink fieldCode="AU" term="%22de+Santana+LS%22">de Santana LS</searchLink>; Monogenic Diabetes Group, Genetic Endocrinology Unit (LIM25), 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>; Monogenic Diabetes Group, Genetic Endocrinology Unit (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Karbage+LBAS%22">Karbage LBAS</searchLink>; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies, Faculdade de Medicina, Universidade Federal do Ceará, Fortaleza, Brazil.<br /><searchLink fieldCode="AU" term="%22Aguiar+LB%22">Aguiar LB</searchLink>; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies, Faculdade de Medicina, Universidade Federal do Ceará, Fortaleza, Brazil.<br /><searchLink fieldCode="AU" term="%22Carvalho+FHC%22">Carvalho FHC</searchLink>; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies, Faculdade de Medicina, Universidade Federal do Ceará, Fortaleza, Brazil.<br /><searchLink fieldCode="AU" term="%22Teles+MG%22">Teles MG</searchLink>; Monogenic Diabetes Group, Genetic Endocrinology Unit (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22d'Alva+CB%22">d'Alva CB</searchLink>; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies, Faculdade de Medicina, Universidade Federal do Ceará, Fortaleza, Brazil.
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  Data: <searchLink fieldCode="JN" term="%22101555782%22">Frontiers in endocrinology</searchLink> [Front Endocrinol (Lausanne)] 2018 Aug 20; Vol. 9, pp. 458. <i>Date of Electronic Publication: </i>2018 Aug 20 (<i>Print Publication: </i>2018).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation]%22">Frontiers Research Foundation] </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101555782 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1664-2392 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216642392%22">16642392 </searchLink><i>NLM ISO Abbreviation: </i>Front Endocrinol (Lausanne) <i>Subsets: </i>PubMed not MEDLINE
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