article_metadata: Valentina Mancioppi Tommaso Daffara Martina Romanisio Giovanni Ceccarini Caterina Pelosini Ferruccio Santini Simonetta Bellone Simona Mellone Alessio Baricich Ivana Rabbone Gianluca Aimaretti Baris Akinci Mara Giordano Flavia Prodam
article_metadata: 10.3389/fendo.2023.1212729
article_metadata: Front Endocrinol (Lausanne)
article_metadata: 2023 Jul 12;14:1212729.
article_metadata: cgl4 ptrf adipose tissue leptin lipodystrophy muscular dystrophy
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/37501786/
article_metadata: Lipodystrophy / genetics Lipodystrophy, Congenital Generalized / diagnosis Lipodystrophy, Congenital Generalized / genetics Muscular Diseases
article_metadata: Lipodystrophy / genetics Lipodystrophy, Congenital Generalized / diagnosis Lipodystrophy, Congenital Generalized / genetics Muscular Diseases Review Case Reports Research Support, Non-U.S. Gov't Child, Preschool Humans Mutation Siblings
article_metadata: PMC10369054
article_metadata: 37501786
article_metadata: A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature
article_metadata: 2023