A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature

Lipodystrophy syndromes are characterized by a progressive metabolic impairment secondary to adipose tissue dysfunction and may have a genetic background. Congenital generalized lipodystrophy type 4 (CGL4) is an extremely rare subtype, caused by mutations in the polymerase I and transcript release f...

Descripción completa

Detalles Bibliográficos
Autores principales: Mancioppi, Valentina, Daffara, Tommaso, Romanisio, Martina, Ceccarini, Giovanni, Pelosini, Caterina, Santini, Ferruccio, Bellone, Simonetta, Mellone, Simona, Baricich, Alessio, Rabbone, Ivana, Aimaretti, Gianluca, Akinci, Baris, Giordano, Mara, Prodam, Flavia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10369054/
https://www.ncbi.nlm.nih.gov/pubmed/37501786
http://dx.doi.org/10.3389/fendo.2023.1212729

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10369054/
https://www.ncbi.nlm.nih.gov/pubmed/37501786
http://dx.doi.org/10.3389/fendo.2023.1212729

Ejemplares similares