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Huriez syndrome相关文献:
Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome.
Loh AYT, Špoljar S, Neo GYW, Escande-Beillard N, Leushacke M, Luijten MNH, Venkatesh B, Bonnard C, van Steensel MAM, Hamm H, Carmichael A, Rajan N, Carney TJ, Reversade B.
Am J Med Genet A. 2022 Jun;188(6):1752-1760. doi: 10.1002/ajmg.a.62703. Epub 2022 Feb 25.
PMID:35212137
Clinical images: Huriez syndrome, a rare scleroderma mimic.
Mukherjee S, Maurya MK, Kumar P.
Arthritis Rheumatol. 2022 Oct;74(10):1675. doi: 10.1002/art.42242. Epub 2022 Aug 12.
PMID:35606925
Huriez syndrome caused by a large deletion that abrogates the skin-specific isoform of SMARCAD1.
Loh AYT, Ho CM, Muthiah S, Venkatesh B, Zwolinski S, Bray APJJ, Reversade B, Rajan N, Carney TJ.
Br J Dermatol. 2021 Jun;184(6):1205-1207. doi: 10.1111/bjd.19799. Epub 2021 Mar 10.
PMID:33400266
Huriez syndrome.
Sekar SC, Srinivas CR.
Indian J Dermatol Venereol Leprol. 2008 Jul-Aug;74(4):409-10. doi: 10.4103/0378-6323.42930.
PMID:18797084
[Huriez syndrome].
Michot C, Girard C, Guillot B, Bessis D.
Ann Dermatol Venereol. 2005 Aug-Sep;132(8-9 Pt 1):727. doi: 10.1016/s0151-9638(05)79431-x.
PMID:16230933
A Rare Syndrome Resembling Scleroderma: Huriez Syndrome.
Çelik NS, Yaşar Ş, Aytekin S, Güneş P.
Skin Appendage Disord. 2018 Apr;4(2):82-85. doi: 10.1159/000479036. Epub 2017 Aug 12.
PMID:29765964
Palmoplantar keratoderma with sclerodactyly (Huriez syndrome).
Patrizi A, Di Lernia V, Patrone P.
J Am Acad Dermatol. 1992 May;26(5 Pt 2):855-7. doi: 10.1016/0190-9622(92)70121-u.
PMID:1613149
Huriez syndrome associated with basal cell carcinoma. A case report.
Grigatti M, Pescarini E, Salmaso R, Gardener C, Brambullo T, Vindigni V.
Ann Ital Chir. 2020 May 11;9:S2239253X20032454.
PMID:32690823
Huriez syndrome with superadded dermatophyte infection.
Surana T, Padhiar B, Karia U, Pandya P.
Indian Dermatol Online J. 2016 Jul-Aug;7(4):288-9. doi: 10.4103/2229-5178.185466.
PMID:27559505
SMARCAD1 Haploinsufficiency Underlies Huriez Syndrome and Associated Skin Cancer Susceptibility.
Günther C, Lee-Kirsch MA, Eckhard J, Matanovic A, Kerscher T, Rüschendorf F, Klein B, Berndt N, Zimmermann N, Flachmeier C, Thuß T, Lucas N, Marenholz I, Esparza-Gordillo J, Hübner N, Traupe H, Delaporte E, Lee YA.
J Invest Dermatol. 2018 Jun;138(6):1428-1431. doi: 10.1016/j.jid.2018.01.015. Epub 2018 Feb 1.
PMID:29409814
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