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

• Hlavní autoři: Wei Jian (Autor), Qi-Ting Du (Autor), Zhen-Fei Lai (Autor), Yu-Fan Li (Autor), Shi-Quan Li (Autor), Zhong-Tang Xiong (Autor), Dun-Jin Chen (Autor), Min Chen (Autor), Jing-Si Chen (Autor)
• Médium: Kniha
• Vydáno: Elsevier, 2018-06-01T00:00:00Z.
• Témata: article
• On-line přístup: Connect to this object online.

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...