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Keratitis-ichthyosis-deafness syndrome and hidradenitis suppurativa.

作者信息

Travis Lisa, Ou Yang Janie, Andersen Rune Kjærsgaard, Skovby Flemming, Jemec Gregor B E, Saunte Ditte M

机构信息

Department of Dermatology, Zealand University Hospital, Roskilde, Denmark.

Ronald O. Perelman Department of Dermatology, NYU Grossman School of Medicine, New York, New York.

出版信息

JAAD Case Rep. 2023 Jun 15;38:158-162. doi: 10.1016/j.jdcr.2023.06.003. eCollection 2023 Aug.

DOI:10.1016/j.jdcr.2023.06.003
PMID:37555193
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10404597/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aece/10404597/4dba82826287/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aece/10404597/9a3497a50f78/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aece/10404597/4dba82826287/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aece/10404597/9a3497a50f78/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aece/10404597/4dba82826287/gr2.jpg

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本文引用的文献

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2
Emerging roles of gap junction proteins connexins in cancer metastasis, chemoresistance and clinical application.缝隙连接蛋白连接子在癌症转移、化疗耐药性及临床应用中的新兴作用。
J Biomed Sci. 2019 Jan 14;26(1):8. doi: 10.1186/s12929-019-0497-x.
3
Recognizing syndromic hidradenitis suppurativa: a review of the literature.
认识综合征型化脓性汗腺炎:文献综述。
J Eur Acad Dermatol Venereol. 2017 Nov;31(11):1809-1816. doi: 10.1111/jdv.14464. Epub 2017 Sep 7.
4
Keratitis, ichthyosis, and deafness syndrome: a review of infectious and neoplastic complications.角化不良、鱼鳞病和耳聋综合征:感染和肿瘤并发症的综述。
J Am Acad Dermatol. 2013 Jul;69(1):127-34. doi: 10.1016/j.jaad.2012.12.965. Epub 2013 Feb 4.
5
Successful treatment with alitretinoin of dissecting cellulitis of the scalp in keratitis-ichthyosis-deafness syndrome.阿利维A酸成功治疗角膜炎-鱼鳞病-耳聋综合征头皮部穿掘性蜂窝织炎。
Acta Derm Venereol. 2013 Jul 6;93(4):473-4. doi: 10.2340/00015555-1499.
6
Clinical practice. Hidradenitis suppurativa.临床实践。化脓性汗腺炎。
N Engl J Med. 2012 Jan 12;366(2):158-64. doi: 10.1056/NEJMcp1014163.
7
Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings.扩展角膜炎-鱼鳞病-耳聋综合征的表型谱:1例携带GJB2(G12R)连接蛋白26突变及不寻常临床表现患者的报告
Pediatr Dermatol. 2012 May-Jun;29(3):349-57. doi: 10.1111/j.1525-1470.2011.01425.x. Epub 2011 Oct 20.
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Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss.间隙连接蛋白 26(GJB2)突变导致的 KID 综合征合并耳聋。
Biochem Biophys Res Commun. 2010 Apr 23;395(1):25-30. doi: 10.1016/j.bbrc.2010.03.098. Epub 2010 Mar 20.
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A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome?两名患者中GJB2(N14K)连接蛋白26突变的报告——一种KID综合征的新亚型?
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Am J Med Genet A. 2007 Apr 1;143A(7):734-41. doi: 10.1002/ajmg.a.31635.