Article
Noonan syndrome and related disorders: genetics and pathogenesis.
Annual review of genomics and human genetics - 1 Jan 2005
Tartaglia Marco, Gelb Bruce D
Abstract excerpt
Noonan syndrome is a pleiomorphic autosomal dominant disorder with short stature, facial dysmorphia, webbed neck, and heart defects. In the past decade, progress has been made in elucidating the pathogenesis of this disorder using a positional cloning approach. Noonan syndrome is now known to be a genetically heterogeneous disorder with nearly one half of cases caused by gain-of-function mutations in PTPN11, the...
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