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
10.3389/fendo.2023.1212729
Front Endocrinol (Lausanne)
2023 Jul 12;14:1212729.
cgl4 ptrf adipose tissue leptin lipodystrophy muscular dystrophy
CC BY
https://pubmed.ncbi.nlm.nih.gov/37501786/
Lipodystrophy / genetics Lipodystrophy, Congenital Generalized / diagnosis Lipodystrophy, Congenital Generalized / genetics Muscular Diseases
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
PMC10369054
37501786
A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature
2023