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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...

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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

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