RASopathies: classification
Evidence-based neurology checklist on rasopathies: classification: RASopathies with designated Neurochecklists Cardio-facio-cutaneous syndrome (CFCS) Costello syndrome Noonan syndrome Legius syndrome Noonan-syndrome phenotypes Other RASopathies Pathology of RASopathies
RASopathies with designated Neurochecklists
- Cardio-facio-cutaneous syndrome (CFCS)
- Costello syndrome
- Noonan syndrome
- Legius syndrome
Noonan-syndrome phenotypes
Other RASopathies
Pathology of RASopathies
References
- Rauen KA. The RASopathies. Annu Rev Genomics Hum Genet 2013; 14:355-369.
- Blumenthal GM, Dennis PA. PTEN hamartoma tumor syndromes. Eur J Hum Genet 2008; 16: 1289-1300.
- Cizmarova M, Kostalova L, Pribilincova Z, et al. Rasopathies-dysmorphic syndromes with short stature and risk of malignancy. Endocr Regul 2013; 47:217-222.
- Sakai N, Maeda T, Kawakami H, et al. Family with Legius syndrome (neurofibromatosis type 1-like syndrome). J Dermatol 2015; 42:703-705.
- Kratz CP, Rapisuwon S, Reed H, Hasle H, Rosenberg PS. Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. Am J Med Genet C Semin Med Genet 2011; 157C:83-89.
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