Noonan Syndrome And Rasopathies — Interesting And Important
Author:
Publisher
Medical University Prof. Dr. Paraskev Stoyanov - Varna
Subject
General Medicine
Reference6 articles.
1. Noonan JA. Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. Am J Dis Child. 1968;116(4):373-80. doi: 10.1001/archpedi.1968.02100020377005.
2. Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet. 2001 Dec;29(4):465-8. doi: 10.1038/ng772.
3. El Bouchikhi I, Belhassan K, Moufid FZ, Iraqui Houssaini M, Bouguenouch L, Samri I, et al. Noonan syndrome-causing genes: Molecular update and an assessment of the mutation rate. Int J Pediatr Adolesc Med. 2016;3(4):133-42. doi: 10.1016/j.ijpam.2016.06.003.
4. Rohrer TR, Abuzzahab J, Backeljauw P, Birkegård AC, Blair J, Dahlgren J, et al. Long-term effectiveness and safety of childhood growth hormone treatment in Noonan syndrome. Horm Res Paediatr. 2020;93(6):380-95. doi: 10.1159/000512429.
5. https://endo-ern.eu/specific-expertise/growth-general-obesity-syndromes/, accessed Oct 8th, 2022
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