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Title: Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities?
Authors: Bertola, D. R.
Kim, C. A.
Pereira, A. C.
Mota, GFA
Krieger, J. E.
Vieira, I. C.
Valente, M.
Loreto, M. R.
Magalhaes, R. P.
Gonzalez, C. H.
Universidade Federal de São Paulo (UNIFESP)
Universidade de São Paulo (USP)
Keywords: Noonan syndrome
Noonan-like/multiple giant cell lesion syndrome
giant cell lesions
chromosome 12
Issue Date: 22-Jan-2001
Publisher: Wiley-Blackwell
Citation: American Journal of Medical Genetics. New York: Wiley-liss, v. 98, n. 3, p. 230-234, 2001.
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.
ISSN: 0148-7299
Other Identifiers:<230
Appears in Collections:Em verificação - Geral

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