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Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.
Boyden LM, Vincent NG, Zhou J, Hu R, Craiglow BG, Bayliss SJ, Rosman IS, Lucky AW, Diaz LA, Goldsmith LA, Paller AS, Lifton RP, Baserga SJ, Choate KA. Boyden LM, et al. Among authors: zhou j. Am J Hum Genet. 2017 Jun 1;100(6):978-984. doi: 10.1016/j.ajhg.2017.05.003. Am J Hum Genet. 2017. PMID: 28575652 Free PMC article.
Impact of epidermal desquamation on tissue stores of iron.
Milstone LM, Hu RH, Dziura JD, Zhou J. Milstone LM, et al. Among authors: zhou j. J Dermatol Sci. 2012 Jul;67(1):9-14. doi: 10.1016/j.jdermsci.2012.04.003. Epub 2012 Apr 13. J Dermatol Sci. 2012. PMID: 22575277 Free PMC article.
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. Among authors: zhou j. 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.
Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.
Boyden LM, Kam CY, Hernández-Martín A, Zhou J, Craiglow BG, Sidbury R, Mathes EF, Maguiness SM, Crumrine DA, Williams ML, Hu R, Lifton RP, Elias PM, Green KJ, Choate KA. Boyden LM, et al. Among authors: zhou j. Hum Mol Genet. 2016 Jan 15;25(2):348-57. doi: 10.1093/hmg/ddv481. Epub 2015 Nov 24. Hum Mol Genet. 2016. PMID: 26604139 Free PMC article.
Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.
Marukian NV, Hu RH, Craiglow BG, Milstone LM, Zhou J, Theos A, Kaymakcalan H, Akkaya DA, Uitto JJ, Vahidnezhad H, Youssefian L, Bayliss SJ, Paller AS, Boyden LM, Choate KA. Marukian NV, et al. Among authors: zhou j. JAMA Dermatol. 2017 Jun 1;153(6):537-543. doi: 10.1001/jamadermatol.2017.0202. JAMA Dermatol. 2017. PMID: 28403434 Free PMC article.
Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.
Boyden LM, Craiglow BG, Hu RH, Zhou J, Browning J, Eichenfield L, Lim YL, Luu M, Randolph LM, Ginarte M, Fachal L, Rodriguez-Pazos L, Vega A, Kramer D, Yosipovitch G, Vahidnezhad H, Youssefian L, Uitto J, Lifton RP, Paller AS, Milstone LM, Choate KA. Boyden LM, et al. Among authors: zhou j. Br J Dermatol. 2017 Jul;177(1):319-322. doi: 10.1111/bjd.15570. Epub 2017 Jun 7. Br J Dermatol. 2017. PMID: 28403545 Free PMC article. No abstract available.
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