Genetic Modifiers of Neurofibromatosis Type 1-Associated Café-au-Lait Macule Count Identified Using Multi-platform Analysis

Neurofibromatosis type 1 (NF1) is an autosomal dominant, monogenic disorder of dysregulated neurocutaneous tissue growth. Pleiotropy, variable expressivity and few NF1 genotype-phenotype correlates limit clinical prognostication in NF1. Phenotype complexity in NF1 is hypothesized to derive in part f...

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Detalhes bibliográficos
Main Authors: Pemov, Alexander, Sung, Heejong, Hyland, Paula L., Sloan, Jennifer L., Ruppert, Sarah L., Baldwin, Andrea M., Boland, Joseph F., Bass, Sara E., Lee, Hyo Jung, Jones, Kristine M., Zhang, Xijun, Mullikin, James C., Widemann, Brigitte C., Wilson, Alexander F., Stewart, Douglas R.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2014
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4199479/
https://ncbi.nlm.nih.gov/pubmed/25329635
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1004575
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