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Article

Prenatal diagnose of a fetus with Harlequin ichthyosis in a Chinese family.

Taiwanese journal of obstetrics & gynecology - 1 Jun 2018

Jian Wei, Du Qi-Ting, Lai Zhen-Fei, Li Yu-Fan, Li Shi-Quan, Xiong Zhong-Tang, Chen Dun-Jin, Chen Min, Chen Jing-Si

Abstract excerpt

OBJECTIVE: Harlequin ichthyosis (HI) was the most severe form of ichthyoses, which leaded to neonatal death in 50% of cases. It was the result of mutations in ABCA12 gene. With the development of ultrasound skills and genetic analysis, HI could be prenatal diagnosed. CASE REPORT: Here, we reported a case of HI, which was prenatal diagnosed by ultrasound examination and genetic analysis. The fetus was found that...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29880184
DOI: 10.1016/j.tjog.2018.04.023

Genes

ABCA12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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