Noonan syndrome
Definition:
References:
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[1]. Amy E Roberts, et al. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet. 2007 Jan;39(1):70-4. [Content Brief]
[2]. Anna Sarkozy, et al. Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. Hum Mutat. 2009 Apr;30(4):695-702. [Content Brief]
[3]. Bhaswati Pandit, et al. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet. 2007 Aug;39(8):1007-12. [Content Brief]
[4]. Erin M Higgins, et al. Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy. JCI Insight. 2017 Mar 9;2(5):e91225. [Content Brief]
[5]. Guilherme Lopes Yamamoto, et al. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. J Med Genet. 2015 Jun;52(6):413-21. [Content Brief]
[6]. Ion C Cirstea, et al. A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet. 2010 Jan;42(1):27-9. [Content Brief]
[7]. M Tartaglia, et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet. 2001 Dec;29(4):465-8. [Content Brief]
[8]. Marco Tartaglia, et al. Noonan syndrome and clinically related disorders. Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):161-79. [Content Brief]
[9]. Marialetizia Motta, et al. Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum. Am J Hum Genet. 2020 Sep 3;107(3):499-513. [Content Brief]
[10]. Marialetizia Motta, et al. SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype. Am J Hum Genet. 2021 Nov 4;108(11):2112-2129. [Content Brief]
[11]. Suzanne Schubbert, et al. Germline KRAS mutations cause Noonan syndrome. Nat Genet. 2006 Mar;38(3):331-6. [Content Brief]
[12]. Yline Capri, et al. Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome. Am J Hum Genet. 2019 Jun 6;104(6):1223-1232. [Content Brief]
[13]. 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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