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

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

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...

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Main Authors: Van Khanh Tran, Quang Minh Diep, Qiu Zilong, Le Thi Phuong, Hai Anh Tran, Nguyen Van Tung, Nguyen Thi Kim Lien, Nguyen Thi Xuan, Le Thi Ha, Thanh Van Ta, Thinh Huy Tran, Nguyen Huy Hoang
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-02-01
Series:Frontiers in Pediatrics
Subjects:
ABCA12
harlequin ichthyosis (HI)
mutation
Vietnamese patient
whole exome sequencing (WES)
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1128716/full

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https://www.frontiersin.org/articles/10.3389/fped.2023.1128716/full

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