Noonan syndrome (NS) and related disorders are autosomal dominant disorders characterized by heart defects, facial dysmorphism, ectodermal abnormalities, and mental retardation. The dysregulation of the RAS/ MAPK pathway appears to be a common molecular pathogenesis of these disorders: mutations in
β¦ LIBER β¦
I1: Molecular mechanisms for rearrangements and their conveyed phenotypes in genomic disorders
β Scribed by Weimin Bi; Naohiro Kurotaki; Jennifer A. Lee; Svetlana A. Yatsenko; Pawel Stankiewicz; James R. Lupski
- Book ID
- 116432838
- Publisher
- Elsevier Science
- Year
- 2005
- Tongue
- English
- Weight
- 106 KB
- Volume
- 48
- Category
- Article
- ISSN
- 1769-7212
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