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SPRED1 Mutations in a Neurofibromatosis Clinic
Legius syndrome, caused by SPRED1 mutations, has phenotypic overlap with neurofibromatosis type 1 (NF1) without tumorigenic manifestations. Patients fulfilling the NIH diagnostic criteria for NF1 were enrolled from the University of Utah NF Clinic and SPRED1 mutation analysis performed in order to i...
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| Autori principali: | , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2010
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3243064/ https://ncbi.nlm.nih.gov/pubmed/20179001 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0883073809359540 |
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