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Homozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy.
Soyaltin, Utku Erdem; Simsir, Ilgin Yildirim; Akinci, Baris; Altay, Canan; Adiyaman, Suleyman Cem; Lee, Kristen; Onay, Huseyin; Oral, Elif Arioglu.
Afiliação
  • Soyaltin UE; Division of Endocrinology and Metabolism, Department of Internal Medicine, Ege University, Izmir, Turkey.
  • Simsir IY; Division of Endocrinology and Metabolism, Department of Internal Medicine, Ege University, Izmir, Turkey.
  • Akinci B; Division of Endocrinology and Metabolism, Department of Internal Medicine, Dokuz Eylul University, Izmir, Turkey.
  • Altay C; Division of Metabolism, Endocrinology and Diabetes (MEND), Department of Internal Medicine, University of Michigan, Ann Arbor, MI USA.
  • Adiyaman SC; Department of Radiology, Dokuz Eylul University, Izmir, Turkey.
  • Lee K; Division of Endocrinology and Metabolism, Department of Internal Medicine, Dokuz Eylul University, Izmir, Turkey.
  • Onay H; Division of Genetics, Metabolism & Genomic Medicine, Department of Pediatrics, Ann Arbor, MI USA.
  • Oral EA; Department of Medical Genetics, Ege University, Izmir, Turkey.
Article em En | MEDLINE | ID: mdl-32685188

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2020 Tipo de documento: Article