Divergent Metabolic Phenotype between Two Sisters with Congenital Generalized Lipodystrophy Due to Double AGPAT2 Homozygous Mutations. A Clinical, Genetic and In Silico Study

• Víctor A. Cortés ,

  * E-mail: vcortes@med.puc.cl (VC); jsantos@med.puc.cl (JS)

  Affiliation Department of Nutrition, Diabetes and Metabolism, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile

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• Susan V. Smalley,

  Affiliation Department of Nutrition, Diabetes and Metabolism, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile

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• Denisse Goldenberg,

  Affiliation Department of Nutrition, Diabetes and Metabolism, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile

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• Carlos F. Lagos,

  Affiliation Department of Endocrinology, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile

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• María I. Hodgson,

  Affiliation Department of Nutrition, Diabetes and Metabolism, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile

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• José L. Santos

  * E-mail: vcortes@med.puc.cl (VC); jsantos@med.puc.cl (JS)

  Affiliation Department of Nutrition, Diabetes and Metabolism, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile

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