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[Phenotypic and genotypic analysis of five fetuses with Harlequin ichthyosis due to variants of ABCA12 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2025

Zeng Yimo, Zhu Juan, Wu Jing, Li Chen, Qi Yiming, Lu Jiaqi, Li Ruiman, Yin Aihua

Abstract excerpt

OBJECTIVE: To explore the clinical and genetic characteristics of five fetuses with Harlequin ichthyosis (HI). METHODS: Five fetuses with HI diagnosed at Guangdong Women and Children Hospital between 2017 and 2024 were selected as study subjects. Clinical and laboratory data were collected and reviewed. Whole exome sequencing (WES) was carried out, and candidate variants were verified by bioinformatic analysis....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41645370
DOI: 10.3760/cma.j.cn511374-20250416-00232

Genes

ABCA12

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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