Open AccessA novel autosomal recessive lipodystrophy syndrome due to homozygous LMNA variant
Author(s) -
Nivedita Patni,
Sarah Hatab,
Chao Xing,
Zhengyang Zhou,
Claudia Quittner,
Abhimanyu Garg
Publication year - 2019
Publication title -
journal of medical genetics
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 2.439
H-Index - 170
eISSN - 1468-6244
pISSN - 0022-2593
DOI - 10.1136/jmedgenet-2019-106395
Subject(s) - lmna , lipodystrophy , medicine , acanthosis nigricans , genetics , endocrinology , dermatology , biology , diabetes mellitus , insulin resistance , mutation , virus , gene , antiretroviral therapy , viral load
Despite major advances in understanding the molecular basis of various genetic lipodystrophy syndromes, some rare patients still remain unexplained.