A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia
Neurofibromatosis Noonan syndrome (NFNS) is a rare RASopathy syndrome, resulting from NF1 gene mutations. NFNS is characterized by phenotypic features of both neurofibromatosis type 1 (NF1) and Noonan syndrome. Plexiform neurofibromas (PNFs) are an unusual finding in NFNS. A seven year-old girl with...
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| Main Authors: | , , , , , , , |
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| Format: | Book |
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Galenos Yayincilik,
2020-03-01T00:00:00Z.
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