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

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

BackgroundAutosomal recessive congenital ichthyosis (ARCI) is a group of genetic skin disorders characterized by abnormal keratinization, leading to significant health issues and reduced quality of life. ARCI encompasses harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lam...

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Bibliographic Details
Main Authors: Linyan Zhu, Rui Zhou, Lianxiao Zhang, Mei Chen, Shengmin Zhang, Xiaxi Huang, Yubo Shi, Huiqing Ding
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-12-01
Series:Frontiers in Pediatrics
Subjects:
autosomal recessive congenital ichthyosis (ARCI)
ABCA12 gene
variant
minigene assay
mRNA splicing
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2024.1505924/full
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https://www.frontiersin.org/articles/10.3389/fped.2024.1505924/full

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