MON-129 An Unusual LMNA Mutation Causing a Complex Phenotype: When the Genetic Diagnosis Uncovers Novel Features

Background: Lipodystrophy syndromes are characterized by loss of body fat. Although classical Familial Partial Lipodystrophy (FPLD) and Congenital Generalized Lipodystrophy (CGL) have different clinical presentations, we have encountered a unique case where the distinction was quite challenging. Cli...

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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: Andrade, Natália, Ferrari, Carla, Jalal Eldin, Abdelwahab, Bhave, Nicole, Little, Ann, McKeever, Paul, Oral, Elif
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2019
Assuntos:
Diabetes Mellitus and Glucose Metabolism
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6550990/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-MON-129
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