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Juvenile-onset generalized lipodystrophy due to a novel heterozygous missense LMNA mutation affecting lamin C.
Patni, Nivedita; Xing, Chao; Agarwal, Anil K; Garg, Abhimanyu.
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  • Patni N; Division of Pediatric Endocrinology, Department of Pediatrics, Center for Human Nutrition, UT Southwestern Medical Center, Dallas, Texas.
  • Xing C; McDermott Center for Human Growth and Development and Departments of Bioinformatics and Clinical Sciences, UT Southwestern Medical Center, Dallas, Texas.
  • Agarwal AK; Division of Nutrition and Metabolic Diseases, Department of Internal Medicine and the Center for Human Nutrition, UT Southwestern Medical Center, Dallas, Texas.
  • Garg A; Division of Nutrition and Metabolic Diseases, Department of Internal Medicine and the Center for Human Nutrition, UT Southwestern Medical Center, Dallas, Texas.
Am J Med Genet A ; 173(9): 2517-2521, 2017 Sep.
Article en En | MEDLINE | ID: mdl-28686329
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hipertrigliceridemia / Lamina Tipo A / Diabetes Mellitus / Lipodistrofia Generalizada Congénita Límite: Adult / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hipertrigliceridemia / Lamina Tipo A / Diabetes Mellitus / Lipodistrofia Generalizada Congénita Límite: Adult / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article Pais de publicación: Estados Unidos