A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia

• Main Authors: Esra Işık (Author), Hüseyin Onay (Author), Tahir Atik (Author), Aslı Ece Solmaz (Author), Samim Özen (Author), Özgür Çoğulu (Author), Şükran Darcan (Author), Ferda Özkınay (Author)
• 格式: 圖書
• 出版: Galenos Yayincilik, 2020-03-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

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...