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

✍ Scribed by Bertola, D�bora R. ;Kim, Chong A. ;Pereira, Alexandre C. ;Mota, Gl�ria F.A. ;Krieger, Jos� E. ;Vieira, In�s C. ;Valente, Marcelo ;Loreto, Marcos Roberto ;Magalh�es, Roberto P. ;Gonzalez, Claudette H.

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 236 KB
Volume: 98
Category: Article
ISSN: 0148-7299
DOI: 10.1002/1096-8628(20010122)98:3<230::aid-ajmg1080>3.0.co;2-k

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W e report on a young man with Noonan syndrome (NS) and retinitis pigmentosa. As far as we know, retinitis pigmentosa has not been reported in NS. However, in the 3 cardio-facio-cutaneous syndrome (CFC) patients in whom electroretinographic studies were performed, retinal anomalies have been found.