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

• Main Authors: Wei Jian (Author), Qi-Ting Du (Author), Zhen-Fei Lai (Author), Yu-Fan Li (Author), Shi-Quan Li (Author), Zhong-Tang Xiong (Author), Dun-Jin Chen (Author), Min Chen (Author), Jing-Si Chen (Author)
• Format: Book
• Published: Elsevier, 2018-06-01T00:00:00Z.
• Subjects: article
• Online Access: 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...