Ontology highlight
ABSTRACT:
SUBMITTER: Coutinho HD
PROVIDER: S-EPMC2674425 | biostudies-literature | 2009 Apr
REPOSITORIES: biostudies-literature
Coutinho Henrique Douglas M HD Falcão-Silva Vivyanne S VS Gonçalves Gregório Fernandes GF da Nóbrega Raphael Batista RB
Immunity & ageing : I & A 20090420
Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder that belongs to a group of conditions called laminopathies which affect nuclear lamins. Mutations in two genes, LMNA and ZMPSTE24, have been found in patients with HGPS. The p.G608G LMNA mutation is the most commonly reported mutation. The aim of this work was to compile a comprehensive literature review of the clinical features and genetic mutations and mechanisms of this syndrome as a contribution to health care wor ...[more]