eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | neurofibromatosis |
| Comorbidity | C0028326|noonan syndrome |
| Sentences | 2 |
| PubMedID- 24767283 | We report a 8-year-old male with multiple café-au-lait macules, several lentigines and dysmorphic features that suggest noonan syndrome initially diagnosed with neurofibromatosis-noonan syndrome. |
| PubMedID- 22965773 | A new nonsense mutation in the nf1 gene with neurofibromatosis-noonan syndrome phenotype. |
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