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Clinical and Mutational Spectrum of Neurofibromatosis Type 1-Like Syndrome JAMA 302:2111-2118, 2150, 2170, Messian,L.,et al, 2009 See this aricle in Pubmed Article Abstract A high SPRED1 mutation detection rate was found in NF1 mutation-negative families with an autosomal dominant phenotype of CALMs with or without freckling and no other NF1 features. Among individuals in this study, NFLS was not associated with the peripheral and central nervous system tumors seen in NF1.

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