Genetic modifiers of neurofibromatosis type 1-associated café-au-lait macule count identified using multi-platform analysis.

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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Bibliographic Details
Main Authors: Alexander Pemov, Heejong Sung, Paula L Hyland, Jennifer L Sloan, Sarah L Ruppert, Andrea M Baldwin, Joseph F Boland, Sara E Bass, Hyo Jung Lee, Kristine M Jones, Xijun Zhang, NISC Comparative Sequencing Program, James C Mullikin, Brigitte C Widemann, Alexander F Wilson, Douglas R Stewart
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-10-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC4199479?pdf=render

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http://europepmc.org/articles/PMC4199479?pdf=render

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