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...

Descripción completa

Detalles Bibliográficos
Autores principales: Işık, Esra, Onay, Hüseyin, Atik, Tahir, Solmaz, Aslı Ece, Özen, Samim, Çoğulu, Özgür, Darcan, Şükran, Özkınay, Ferda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7127889/
https://www.ncbi.nlm.nih.gov/pubmed/31088041
http://dx.doi.org/10.4274/jcrpe.galenos.2019.2019.0023

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7127889/
https://www.ncbi.nlm.nih.gov/pubmed/31088041
http://dx.doi.org/10.4274/jcrpe.galenos.2019.2019.0023

Ejemplares similares