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3 articles related to "Harlequin Ichthyosis"

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Articles

Case Report

Published on 12 Jan 2021

Case Report: Prenatal Diagnosis of a Fetus With Harlequin Ichthyosis Identifies Novel Compound Heterozygous Variants: A Case Report

in Genetics of Common and Rare Diseases

Jiao Liu
Xingyu Zhang
Weilan Wang
Xiaofang Lan
Minyue Dong
Kai Yan
Yongliang Lei
Penglong Chen
Mufeng Yang
Qunda Shan

Frontiers in Genetics

doi 10.3389/fgene.2020.608196

6,839 views
7 citations

Original Research

Published on 19 Dec 2024

A novel variant c.7104 + 6T > A of ABCA12 linked to autosomal recessive congenital ichthyosis verified by minigene splicing assay

in Genetics of Common and Rare Diseases

Linyan Zhu
Rui Zhou
Lianxiao Zhang
Mei Chen
Shengmin Zhang
Xiaxi Huang
Yubo Shi
Huiqing Ding

Frontiers in Pediatrics

doi 10.3389/fped.2024.1505924

1,846 views

Case Report

Published on 15 Feb 2023

Case Report: Novel rare mutation c.6353C > G in the ABCA12 gene causing harlequin ichthyosis identified by whole exome sequencing

in Genetics of Common and Rare Diseases

Van Khanh Tran
Quang Minh Diep
Qiu Zilong
Le Thi Phuong
Hai Anh Tran
Nguyen Van Tung
Nguyen Thi Kim Lien
Nguyen Thi Xuan
Le Thi Ha
Thanh Van Ta

Frontiers in Pediatrics

doi 10.3389/fped.2023.1128716

6,373 views
3 citations