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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Detalles Bibliográficos
Autores principales: Andrade, Natália, Ferrari, Carla, Jalal Eldin, Abdelwahab, Bhave, Nicole, Little, Ann, McKeever, Paul, Oral, Elif
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2019
Materias:
Diabetes Mellitus and Glucose Metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6550990/
http://dx.doi.org/10.1210/js.2019-MON-129

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6550990/
http://dx.doi.org/10.1210/js.2019-MON-129

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