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

• Автори: Van Khanh Tran (Автор), Quang Minh Diep (Автор), Qiu Zilong (Автор), Le Thi Phuong (Автор), Hai Anh Tran (Автор), Nguyen Van Tung (Автор), Nguyen Thi Kim Lien (Автор), Nguyen Thi Xuan (Автор), Le Thi Ha (Автор), Thanh Van Ta (Автор), Thinh Huy Tran (Автор), Nguyen Huy Hoang (Автор)
• Формат: Книга
• Опубліковано: Frontiers Media S.A., 2023-02-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: 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...