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?

Autor 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
Instituição Universidade Federal de São Paulo (UNIFESP)
Universidade de São Paulo (USP)
Resumo 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.
Palavra-chave Noonan syndrome
Noonan-like/multiple giant cell lesion syndrome
giant cell lesions
chromosome 12
Idioma Inglês
Data de publicação 2001-01-22
Publicado em American Journal of Medical Genetics. New York: Wiley-liss, v. 98, n. 3, p. 230-234, 2001.
ISSN 0148-7299 (Sherpa/Romeo, fator de impacto)
Publicador Wiley-Blackwell
Extensão 230-234
Fonte http://dx.doi.org/10.1002/1096-8628(20010122)98:3<230
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:000166718600005
Endereço permanente http://repositorio.unifesp.br/handle/11600/26475

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