Noonan syndrome and related disorders: Alterations in growth and puberty
Author:
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Link
https://link.springer.com/content/pdf/10.1007/s11154-006-9021-1.pdf
Reference33 articles.
1. Noonan JA. Noonan syndrome an update and review for the primary pediatrician. Clin Pediatr 1994;33:548–55.
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;29:465–8
3. Gorlin RJ, Anderson RC, Blaw M. Multiple lentigines syndrome. Am J Dis Child 1969;17:652–62.
4. Reynolds JF, Neri G, Hermann JP, Blumberg B, Coldwell JG, Miles PV, et al. New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement—the CFC syndrome. Am J Med Genet 1986;28:413–27.
5. Hennekam RC. Costello syndrome, an overview. Am J Med Genet 2003;117C(1):42–8.
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