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Two Novel Variants and One Previously Reported Variant in the ATP2C1 Gene in Chinese Hailey-Hailey Disease Patients

Hailey-Hailey disease (HHD) is a rare autosomal dominant genodermatosis. It is characterized clinically by recurrent erosions, blisters and erythematous plaques at the sites of friction and intertriginous areas. The pathogenic gene of HHD was reported to be the ATPase calcium-transporting type 2C me...

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Bibliografische gegevens
Gepubliceerd in:Mol Syndromol
Hoofdauteurs: Xiao, Zhen, Liu, Zhi-Gang, Ou Yang, Xiao-Liang, Yu, Si-Min, Zeng, Jian-rong, Li, Chun-Ming
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: S. Karger AG 2021
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8216019/
https://ncbi.nlm.nih.gov/pubmed/34177430
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000514282
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