Leu124Serfs*26, a novel AGPAT2 mutation in congenital generalized lipodystrophy with early cardiovascular complications
Abstract Background Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by the near-total loss of subcutaneous adipose tissue soon after birth, resulting in ectopic fat deposition and severe metabolic disturbances. Most cases are caused by AGPAT2 or BSCL2...
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| Principais autores: | , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMC
2020-04-01
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| coleção: | Diabetology & Metabolic Syndrome |
| Assuntos: | |
| Acesso em linha: | http://link.springer.com/article/10.1186/s13098-020-00538-y |
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