Article
Cockayne syndrome in three sisters with varying clinical presentation.
American journal of medical genetics - 22 Jul 2002
Mahmoud Adel A H, Yousef George M, Al-Hifzi Ibrahim, Diamandis Eleftherios P
Abstract excerpt
We report three sisters showing the clinical features and investigational findings of Cockayne syndrome (CS). In the rehabilitation unit of Northwest Armed Forces Hospital (N.W.A.F.H.), Tabuk, Saudi Arabia, there was a 12-year-old girl with typical features of CS. The girl had no apparent problems until the end of the first year when growth and developmental delay prompted medical evaluation. Brain CT, bone...
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