Case Report: Novel rare mutation c.6353C > G in the ABCA12 gene causing harlequin ichthyosis identified by whole exome sequencing

• Main Authors: Van Khanh Tran (Author), Quang Minh Diep (Author), Qiu Zilong (Author), Le Thi Phuong (Author), Hai Anh Tran (Author), Nguyen Van Tung (Author), Nguyen Thi Kim Lien (Author), Nguyen Thi Xuan (Author), Le Thi Ha (Author), Thanh Van Ta (Author), Thinh Huy Tran (Author), Nguyen Huy Hoang (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

BackgroundHarlequin ichthyosis (HI) is a severe rare genetic disease that mainly affects the skin. Neonates with this disease are born with thick skin and large diamond-shaped plates covering most of their bodies. Affected neonates lose the ability to control dehydration and regulate temperature and...