Carolina Cecchetti M Rosaria D'Apice Elena Morini Giuseppe Novelli Carmine Pizzi Uberto Pagotto Alessandra Gambineri
10.3389/fendo.2021.675096
Front Endocrinol (Lausanne)
2021 Apr 19;12:675096.
lmna gene cardiomyopathy laminopathy lipodystrophy rod domain
CC BY
https://pubmed.ncbi.nlm.nih.gov/33953703/
Genetic Association Studies Lamin Type A / genetics Lamins / genetics Lipodystrophy, Familial Partial / pathology Mutation, Missense
Genetic Association Studies Lamin Type A / genetics Lamins / genetics Lipodystrophy, Familial Partial / pathology Mutation, Missense Case Reports Adult Female Humans Lipodystrophy, Familial Partial / genetics Prognosis LMNA protein, human Lamin Type A Lamins lamin C protein, human
PMC8092436
33953703
Case Report: An Atypical Form of Familial Partial Lipodystrophy Type 2 Due to Mutation in the Rod Domain of Lamin A/C
2021