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The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.
Sun Q, Burgren NM, Cheraghlou S, Paller AS, Larralde M, Bercovitch L, Levinsohn J, Ren I, Hu RH, Zhou J, Zaki T, Fan R, Tian C, Saraceni C, Nelson-Williams CJ, Loring E, Craiglow BG, Milstone LM, Lifton RP, Boyden LM, Choate KA. Sun Q, et al. Among authors: zaki t. JAMA Dermatol. 2022 Jan 1;158(1):16-25. doi: 10.1001/jamadermatol.2021.4242. JAMA Dermatol. 2022. PMID: 34851365 Free PMC article.
Clues to primary vismodegib resistance lie in histology and genetics.
Sun Q, Atzmony L, Zaki T, Peng A, Sugarman J, Choate KA. Sun Q, et al. Among authors: zaki t. J Clin Pathol. 2020 Oct;73(10):678-680. doi: 10.1136/jclinpath-2020-206448. Epub 2020 Mar 26. J Clin Pathol. 2020. PMID: 32217615 Free PMC article.
Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis.
Boyden LM, Zhou J, Hu R, Zaki T, Loring E, Scott J, Traupe H, Paller AS, Lifton RP, Choate KA. Boyden LM, et al. Among authors: zaki t. Am J Hum Genet. 2020 Jul 2;107(1):158-163. doi: 10.1016/j.ajhg.2020.05.013. Epub 2020 Jun 8. Am J Hum Genet. 2020. PMID: 32516568 Free PMC article.
64 results