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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Endocrine Society
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6550990/ http://dx.doi.org/10.1210/js.2019-MON-129 |