Article
[Hutchinson-Gilford progeria syndrome: clinical and molecular analysis in an African patient].
Revue medicale de Liege - 1 Mar 2007
Mutesa L, Pierquin G, Cwiny-Ay N, Buzizi P, Bours V
Abstract excerpt
Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare genetic disease characterized by an early onset of several clinical features including premature ageing in children. Approximately 80% of HGPS cases are caused by a de novo single-base pair substitution c.1824 C>T (GGC > GGT, p.Gly6...
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