Article
Cell biology of disease: Telomeropathies: an emerging spectrum disorder.
The Journal of cell biology - 12 May 2014
Holohan Brody, Wright Woodring E, Shay Jerry W
Abstract excerpt
A constellation of related genetic diseases are caused by defects in the telomere maintenance machinery. These disorders, often referred to as telomeropathies, share symptoms and molecular mechanisms, and mounting evidence indicates they are points along a spectrum of disease. Several new causes of these disorders have been recently discovered, and a number of related syndromes may be unrecognized...
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