Unusual clinical features associated with congenital generalized lipodystrophy type 4 in a patient with a novel E211X CAVIN1 gene variant
Abstract Background Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by the lack of adipose tissue and metabolic complications with predominantly autosomal recessive inheritance. There are 6 different genes known to cause CGL with 4 main types recognized to date, which dif...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2020-05-01
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| Series: | Clinical Diabetes and Endocrinology |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s40842-020-00095-3 |