Lipoid Proteinosis: A Rare Case Report and Review of Literature.
作者信息
Verma Damini, Mendiratta Vibhu, Yadav Vidya, Birla Anjali, Srivastava Amol
机构信息
Department of Dermatology, Lady Hardinge Medical College and Hospitals, New Delhi, India.
Department of Radiology, Institute of Liver and Biliary Sciences, New Delhi, India.
出版信息
Indian Dermatol Online J. 2024 May 20;15(5):866-869. doi: 10.4103/idoj.idoj_710_23. eCollection 2024 Sep-Oct.
Abstract
摘要
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本文引用的文献
1
Lipoid Proteinosis: a case report in two siblings.类脂蛋白沉积症：两例同胞病例报告
Dermatol Online J. 2014 Dec 14;21(3):13030/qt72c3461z.
2
Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family.脂质蛋白沉积症的分子分析：在一个巴基斯坦家族中 ECM1 基因的新型无义突变的鉴定。
Diagn Pathol. 2011 Jul 26;6:69. doi: 10.1186/1746-1596-6-69.
3
Lipoid proteinosis: case report and review of the literature.类脂蛋白沉积症：病例报告及文献综述。
Acta Otorhinolaryngol Ital. 2006 Jun;26(3):162-7.
4
Molecular basis of lipoid proteinosis in two Indian siblings.两名印度同胞患类脂蛋白沉积症的分子基础。
J Dermatol. 2004 Sep;31(9):764-6. doi: 10.1111/j.1346-8138.2004.tb00593.x.
5
Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).类脂蛋白沉积症定位于1q21，由细胞外基质蛋白1基因（ECM1）突变引起。
Hum Mol Genet. 2002 Apr 1;11(7):833-40. doi: 10.1093/hmg/11.7.833.
6
Treatment of lipoid proteinosis with etretinate.用依曲替酯治疗类脂蛋白沉积症。
Acta Derm Venereol. 1996 Mar;76(2):154-5. doi: 10.2340/0001555576154155.
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