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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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Detalhes bibliográficos
Main Authors: Muram-Zborovski, Talia M, Stevenson, David A, Viskochil, David H, Dries, David C, Wilson, Andrew R, Mao, Rong
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
Assuntos:
Acesso em linha: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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