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Neurofibromatosis-Noonan Syndrome With Primary Amenorrhoea: A Case Report
Neurofibromatosis-Noonan syndrome is a rare RASopathy syndrome. It occurs due to the mutation in the NF1 gene and the patients present with the phenotypic features of both Neurofibromatosis and Noonan syndrome. Here a case of an early adolescent girl is described who presented with the chief complai...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cureus
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10435821/ https://www.ncbi.nlm.nih.gov/pubmed/37602003 http://dx.doi.org/10.7759/cureus.42098 |