eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | cerebro-costo-mandibular syndrome |
| Comorbidity | C0205834|multiple meningiomas |
| Sentences | 2 |
| PubMedID- 25702150 | More reports having this combination and further investigations of nf1 families will certainly provide a better understanding of links between these 2 phakomatoses, as recently reported with "multiple meningiomas" phenotype associated with multiple ccms in patients with ccm3 gene mutations or cafe-au-lait skin lesions in ccm1 mutation carriers. |
| PubMedID- 26246098 | Based on neuroradiological and molecular data as well as on literature review, we outline a consistent association between pdcd10 mutations and a syndrome of ccms with multiple meningiomas. |
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