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Novel ABCA12 missense mutation p.Phe2144Ser underlies congenital ichthyosiform erythroderma.

作者信息

Shimizu Yoshitaka, Sugiura Kazumitsu, Aoyama Yumi, Ogawa Yasushi, Hitomi Kiyotaka, Iwatsuki Keiji, Akiyama Masashi

出版信息

J Dermatol. 2013 Jul;40(7):581-2. doi: 10.1111/1346-8138.12169. Epub 2013 May 19.

DOI:10.1111/1346-8138.12169
PMID:23682801
Abstract
摘要

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Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia.在两例与多发性皮肤恶性肿瘤相关的非大疱性先天性鱼鳞病样红皮病病例中鉴定出新型ABCA12突变。
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引用本文的文献

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Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients.用于常染色体隐性先天性鱼鳞病分子诊断的多基因下一代测序：对四名意大利患者的基因型-表型研究
Diagnostics (Basel). 2020 Nov 24;10(12):995. doi: 10.3390/diagnostics10120995.
2
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.
3
A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.
在一名厄瓜多尔丑角鱼鳞病患者中鉴定出一种新型ABCA12病理变异：在基因型-表型相关性研究方面向前迈进了一步。
Mol Genet Genomic Med. 2019 May;7(5):e608. doi: 10.1002/mgg3.608. Epub 2019 Mar 27.