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...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayincilik
2020-03-01
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| Series: | JCRPE |
| Subjects: | |
| Online Access: |
http://www.jcrpe.org/archives/archive-detail/article-preview/a-neurofibromatosis-noonan-syndrome-patient-presen/27450
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