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Mosaicism in Cutaneous Disorders.
Lim YH, Moscato Z, Choate KA. Lim YH, et al. Annu Rev Genet. 2017 Nov 27;51:123-141. doi: 10.1146/annurev-genet-121415-121955. Annu Rev Genet. 2017. PMID: 29178821 Free PMC article. Review.
Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti.
Choate KA, Lu Y, Zhou J, Elias PM, Zaidi S, Paller AS, Farhi A, Nelson-Williams C, Crumrine D, Milstone LM, Lifton RP. Choate KA, et al. J Clin Invest. 2015 Apr;125(4):1703-7. doi: 10.1172/JCI64415. Epub 2015 Mar 16. J Clin Invest. 2015. PMID: 25774499 Free PMC article.
Phenotypic expansion in ichthyosis with confetti.
Choate KA, Milstone LM. Choate KA, et al. JAMA Dermatol. 2015 Jan;151(1):15-6. doi: 10.1001/jamadermatol.2014.2525. JAMA Dermatol. 2015. PMID: 25210951 Free PMC article. No abstract available.
Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus.
Levinsohn JL, Tian LC, Boyden LM, McNiff JM, Narayan D, Loring ES, Yun D, Sugarman JL, Overton JD, Mane SM, Lifton RP, Paller AS, Wagner AM, Antaya RJ, Choate KA. Levinsohn JL, et al. J Invest Dermatol. 2013 Mar;133(3):827-830. doi: 10.1038/jid.2012.379. Epub 2012 Oct 25. J Invest Dermatol. 2013. PMID: 23096712 Free PMC article. No abstract available.