Article
LMNA mutation in progeroid syndrome in association with strokes.
European journal of medical genetics - 1 Jan 2000
Gonzalez-Quereda L, Delgadillo V, Juan-Mateu J, Verdura E, Rodriguez M J, Baiget M, Pineda M, Gallano P
Abstract excerpt
Hutchinson-Gilford progeria syndrome is a very rare but well-characterized genetic disorder that causes premature ageing. Clinical features affect growth, skeleton, body fat, skin, hair and the cardiovascular system. It is caused by mutations in LMNA gene, the most frequent being p.Gly608Gly (c.1824C > T) in exon 11. Here we present a four-year-old HGPS patient who presented several severe strokes and carried a...
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