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...
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 |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2018-06-01
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Series: | Taiwanese Journal of Obstetrics & Gynecology |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455918300895 |
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