Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype-phenotype correlations and literature review.

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第一作者： Jia-Wei,Liu

第一单位： Department of Dermatology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, National Clinical Research Center for Dermatologic and Immunologic Diseases, Beijing, China.

作者： Jia-Wei,Liu ^[1] ; Kexin,Guo ^[2] ; Rui,Zhang ^[3] ; Rongrong,Wang ^[2] ; Dong-Lai,Ma ^[2] ; Xue,Zhang ^[1]

作者单位： Department of Dermatology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, National Clinical Research Center for Dermatologic and Immunologic Diseases, Beijing, China. ^[1] McKusick-Zhang Center for Genetic Medicine, State Key Laboratory for Complex Severe and Rare Diseases, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China. ^[2] Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Women and Children's Healthcare Hospital, Nanjing, China. ^[3]

关键词 ABCA12 autosomal recessive congenital ichthyosis (ARCI)compound heterozygous variants congenital ichthyosiform erythroderma (CIE)genotype–phenotype correlations

主题词人类(Humans);男(雄)性(Male);ATP结合匣式转运子(ATP-Binding Cassette Transporters);遗传关联研究(Genetic Association Studies);杂合子(Heterozygote);鳞癣样红皮病, 先天性(Ichthyosiform Erythroderma, Congenital);突变(Mutation);突变, 误义(Mutation, Missense);表型(Phenotype)

DOI 10.1002/mgg3.2431

PMID 38702946

发布时间 2024-07-02

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Molecular genetics & genomic medicine

2024年12卷5期

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Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype-phenotype correlations and literature review.

Molecular genetics & genomic medicine

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Molecular genetics & genomic medicine

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Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype-phenotype correlations and literature review.

Molecular genetics & genomic medicine

相似文献

Molecular genetics & genomic medicine

相关期刊

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