Noonan syndrome and related disorders

Definition:

Noonan syndrome comprises genetically heterogeneous disorders that usually include postnatally reduced growth, distinctive facial dysmorphic features, and congenital heart defects and related disorders show considerable overlapping phenotypes with Noonan syndrome. These disorders are caused by germline mutations in genes that encode components or regulators of the Ras/MAPK pathway, and are called RASopathies.

References:

[1]. Amy E Roberts, et al. Noonan syndrome. Lancet. 2013 Jan 26;381(9863):333-42. [Content Brief]

[2]. Katherine A Rauen, et al. The RASopathies. Annu Rev Genomics Hum Genet. 2013;14:355-69. [Content Brief]

[3]. Marco Tartaglia, et al. Noonan syndrome and clinically related disorders. Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):161-79. [Content Brief]

[4]. Yoko Aoki, et al. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. Am J Hum Genet. 2013 Jul 11;93(1):173-80. [Content Brief]

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