Chargement en cours...
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...
Enregistré dans:
| Publié dans: | J Clin Res Pediatr Endocrinol |
|---|---|
| Auteurs principaux: | , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Galenos Publishing
2020
|
| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7127889/ https://ncbi.nlm.nih.gov/pubmed/31088041 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.galenos.2019.2019.0023 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|