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

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

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...

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Bibliographic Details
Main Authors: Wei Jian, Qi-Ting Du, Zhen-Fei Lai, Yu-Fan Li, Shi-Quan Li, Zhong-Tang Xiong, Dun-Jin Chen, Min Chen, Jing-Si Chen
Format: Article
Language:English
Published: Elsevier 2018-06-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Subjects:
Harlequin ichthyosis
Prenatal diagnose
ABCA12 gene
Chinese family
Online Access:http://www.sciencedirect.com/science/article/pii/S1028455918300895

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