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Mild case of congenital ichthyosiform erythroderma with periodic exacerbation: Novel mutations in ABCA12 and upregulation of calprotectin in the epidermis.

作者信息

Wada Yoshihiro, Kusakabe Minori, Nagai Makoto, Yamamoto Masaaki, Imai Yasutomo, Ide Yoshi-Hiro, Hirota Seiichi, Yamanishi Kiyofumi

机构信息

Department of Dermatology, Hyogo College of Medicine, Nishinomiya, Japan.

Department of Surgical Pathology, Hyogo College of Medicine, Nishinomiya, Japan.

出版信息

J Dermatol. 2017 Nov;44(11):e282-e283. doi: 10.1111/1346-8138.13976. Epub 2017 Aug 3.

DOI:10.1111/1346-8138.13976
PMID:28771802
Abstract
摘要

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Dermatology. 2024;240(3):397-413. doi: 10.1159/000536366. Epub 2024 Apr 8.
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Congenital ichthyosiform erythroderma with a novel variant in in a Chinese patient.一名中国患者患有先天性鱼鳞病样红皮病并伴有一种新的变异。
Pediatr Investig. 2020 Mar 17;4(1):51-54. doi: 10.1002/ped4.12182. eCollection 2020 Mar.
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A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.
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Mol Genet Genomic Med. 2019 May;7(5):e608. doi: 10.1002/mgg3.608. Epub 2019 Mar 27.