Open Access<p>Clinical and Molecular Investigation of Familial Multiple Lipomatosis: Variants in the <em>HMGA2</em> Gene</p>
Author(s) -
Diana Marcela Mejía-Granados,
Marcella Bergamini de Baptista,
Luciana Cardoso Bonadia,
Carmen Sílvia Bertuzzo,
Carlos Eduardo Steiner
Publication year - 2020
Publication title -
clinical, cosmetic and investigational dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.73
H-Index - 35
ISSN - 1178-7015
DOI - 10.2147/ccid.s213139
Subject(s) - hmga2 , genetics , exon , sanger sequencing , gene , lipomatosis , biology , bioinformatics , dna sequencing , microrna
Familial multiple lipomatosis (FML) is an autosomal dominant disorder characterized by the slow growth of encapsulated nodules spread across the trunk and limbs. Currently, there is no specific etiology; therefore, its molecular and biological bases need to be better understood. High-throughput sequencing technologies appear to be a cost-effective tool and have a pivotal role in elucidating different genodermatoses.