Please use this identifier to cite or link to this item: http://hdl.handle.net/2381/14341
Title: Hutchinson-Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature.
Authors: Mazereeuw-Hautier, J
Wilson, LC
Mohammed, S
Smallwood, D
Shackleton, S
Atherton, DJ
Harper, JI
First Published: Jun-2007
Citation: BR J DERMATOL, 2007, 156 (6), pp. 1308-1314
Abstract: Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature ageing disorder that belongs to a group of conditions called laminopathies which affect nuclear lamins. Classical and atypical forms of HGPS have been reported and there are clinical overlaps with mandibulo-acral dysplasia and restrictive dermopathy. To date, 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. Correlations between genotype and phenotype in children with progeroid syndromes are beginning to emerge.
DOI Link: 10.1111/j.1365-2133.2007.07897.x
ISSN: 0007-0963
Links: http://hdl.handle.net/2381/14341
Type: Journal Article
Appears in Collections:Published Articles, Dept. of Biochemistry

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