Prenatal diagnose of a fetus with Harlequin ichthyosis in a Chinese family
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.
Source: Taiwanese Journal of Obstetrics and Gynecology - Category: OBGYN 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 Tags: Case Report Source Type: research
More News: China Health | Genetics | Harlequin Ichthyosis | Ichthyosis | OBGYN | Perinatology & Neonatology | Taiwan Health | Ultrasound