Unusual clinical features associated with congenital generalized lipodystrophy type 4 in a patient with a novel E211X CAVIN1 gene variant

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 differ by t...

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Detalles Bibliográficos
Autores principales: Sorkina, Ekaterina, Makarova, Polina, Bolotskaya, Liubov, Ulyanova, Irina, Chernova, Tatyana, Tiulpakov, Anatoly
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7227336/
https://www.ncbi.nlm.nih.gov/pubmed/32467771
http://dx.doi.org/10.1186/s40842-020-00095-3

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