Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities?

Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities?

Author Bertola, D. R. Google Scholar
Kim, C. A. Google Scholar
Pereira, A. C. Google Scholar
Mota, GFA Google Scholar
Krieger, J. E. Google Scholar
Vieira, I. C. Google Scholar
Valente, M. Google Scholar
Loreto, M. R. Google Scholar
Magalhaes, R. P. Google Scholar
Gonzalez, C. H. Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Universidade de São Paulo (USP)
Abstract We report on a family with typical clinical findings of Noonan syndrome associated with giant cell lesions in maxilla and mandible. We discuss the obvious clinical overlap between Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome, and we give further clinical and molecular support that these two entities could be allelic conditions. (C) 2001 Wiley-Liss, Inc.
Keywords Noonan syndrome
Noonan-like/multiple giant cell lesion syndrome
giant cell lesions
chromosome 12
Language English
Date 2001-01-22
Published in American Journal of Medical Genetics. New York: Wiley-liss, v. 98, n. 3, p. 230-234, 2001.
ISSN 0148-7299 (Sherpa/Romeo, impact factor)
Publisher Wiley-Blackwell
Extent 230-234
Origin http://dx.doi.org/10.1002/1096-8628(20010122)98:3<230
Access rights Closed access
Type Article
Web of Science ID WOS:000166718600005
URI http://repositorio.unifesp.br/handle/11600/26475

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