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Article

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

PLoS genetics - 1 Oct 2014

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

Abstract excerpt

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 from genetic modifiers unlinked to the NF1 locus. In this study, we hypothesized that normal variation in germline...

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Identifiers

PMID: 25329635
DOI: 10.1371/journal.pgen.1004575
PMCID: PMC4199479

Genes

MSH6
DPH2

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