Article
Bilateral stenosis of carotid siphon in Hutchinson-Gilford progeria syndrome.
Brain & development - 1 Aug 2013
Narazaki Ryo, Makimura Mika, Sanefuji Masafumi, Fukamachi Shigeru, Akiyoshi Hidetaka, So Hidenori, Yamamura Kenichiro, Doisaki Sayoko, Kojima Seiji, Ihara Kenji, Hara Toshiro, Ohga Shouichi
Abstract excerpt
Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disease, caused by a de novo mutation of lamin-A gene, LMNA G608G. Accumulation of abnormal lamin-A (progerin) compromises nuclear membrane integrity and results in the accelerated senescence. Affected patients show a typical feature of birdlike face, alopecia, sclerotic skin, loss of subcutaneous fat, and short stature with advancing years....
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