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CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation.
Esteghamat F, Broughton JS, Smith E, Cardone R, Tyagi T, Guerra M, Szabó A, Ugwu N, Mani MV, Azari B, Kayingo G, Chung S, Fathzadeh M, Weiss E, Bender J, Mane S, Lifton RP, Adeniran A, Nathanson MH, Gorelick FS, Hwa J, Sahin-Tóth M, Belfort-DeAguiar R, Kibbey RG, Mani A. Esteghamat F, et al. Among authors: ugwu n. Nat Genet. 2019 Aug;51(8):1233-1243. doi: 10.1038/s41588-019-0470-3. Epub 2019 Jul 29. Nat Genet. 2019. PMID: 31358993 Free PMC article.
A rapidly fluctuating rash in a stuporous patient.
Ugwu N, Gehlhausen JR, Braverman IM, Bolognia JL. Ugwu N, et al. JAAD Case Rep. 2021 Jan 8;9:72-74. doi: 10.1016/j.jdcr.2020.12.027. eCollection 2021 Mar. JAAD Case Rep. 2021. PMID: 33665282 Free PMC article. No abstract available.
Multiple, Tender Perianal Ulcers in a Young Woman.
Ugwu N, Galan A, Nelson CA. Ugwu N, et al. JAMA Dermatol. 2021 Apr 1;157(4):458-459. doi: 10.1001/jamadermatol.2020.5764. JAMA Dermatol. 2021. PMID: 33595629 No abstract available.
Deep, circumferential ulcers of the lower extremity.
Ugwu N, Kibbi N, Glusac EJ, Imaeda S. Ugwu N, et al. JAAD Case Rep. 2020 Jun 11;6(6):579-580. doi: 10.1016/j.jdcr.2019.12.021. eCollection 2020 Jun. JAAD Case Rep. 2020. PMID: 32577488 Free PMC article. No abstract available.
Segmental basaloid follicular hamartomas derive from a post-zygotic SMO p.L412F pathogenic variant and express hair follicle development-related proteins in a pattern that distinguish them from basal cell carcinomas.
Atzmony L, Ugwu N, Bercovitch LG, Robinson-Bostom L, Ko CJ, Myung P, Choate KA. Atzmony L, et al. Among authors: ugwu n. Am J Med Genet A. 2022 Dec;188(12):3525-3530. doi: 10.1002/ajmg.a.62951. Epub 2022 Aug 16. Am J Med Genet A. 2022. PMID: 35972041 Free PMC article.
83 results