Comparing histopathology from patients with X-linked recessive ichthyosis and autosomal recessive congenital ichthyosis with transglutaminase 1 mutation: A report from the National Registry for Ichthyosis and Related Skin Disorders.
作者信息
Yang Catherine S, Pomerantz Hyemin, Mannava Kathleen A, Corwin Jessica, Weinstock Martin A, Fleckman Philip, DiGiovanna John J, Robinson-Bostom Leslie
机构信息
Department of Dermatology, Alpert Medical School of Brown University, Providence, RI.
Dermatoepidemiology Unit, VA Medical Center, Providence, RI.
出版信息
J Am Acad Dermatol. 2016 May;74(5):1008-10.e2. doi: 10.1016/j.jaad.2015.12.027.
Abstract
摘要
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本文引用的文献
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Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.常染色体隐性遗传性先天性鱼鳞病中的转谷氨酰胺酶-1基因突变：突变总结（包括23个新突变）及转谷氨酰胺酶-1建模
Hum Mutat. 2009 Apr;30(4):537-47. doi: 10.1002/humu.20952.
2
Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders.表皮松解性角化过度的组织病理学特征：来自鱼鳞病及相关皮肤疾病国家登记处的组织学系统评价
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X-linked ichthyosis and ichthyosis vulgaris. Clinical and genetic distinctions in a second series of families.
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Histology of autosomal dominant ichthyosis vulgaris and X-linked ichthyosis.寻常型常染色体显性鱼鳞病和X连锁鱼鳞病的组织学
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Heterogeneity in autosomal recessive ichthyosis. Clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma.常染色体隐性鱼鳞病的异质性。板层状鱼鳞病和非大疱性先天性鱼鳞病样红皮病的临床及生化鉴别
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