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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Description
ISSN:1664-2392
DOI:10.3389/fendo.2018.00458