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

BACKGROUND: Harlequin 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 a...

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Detalles Bibliográficos
Autores principales: Tran, Van Khanh, Diep, Quang Minh, Zilong, Qiu, Phuong, Le Thi, Tran, Hai Anh, Van Tung, Nguyen, Lien, Nguyen Thi Kim, Xuan, Nguyen Thi, Ha, Le Thi, Van Ta, Thanh, Tran, Thinh Huy, Hoang, Nguyen Huy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9977293/
https://www.ncbi.nlm.nih.gov/pubmed/36873642
http://dx.doi.org/10.3389/fped.2023.1128716

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