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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4199479/
https://www.ncbi.nlm.nih.gov/pubmed/25329635
http://dx.doi.org/10.1371/journal.pgen.1004575

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4199479/
https://www.ncbi.nlm.nih.gov/pubmed/25329635
http://dx.doi.org/10.1371/journal.pgen.1004575

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