Mutation Analysis of the CYP4F22 Gene in a Family with Autosomal Recessive Congenital Ichthyosis

Mutation Analysis of the CYP4F22 Gene in a Family with Autosomal Recessive Congenital Ichthyosis

Autosomal recessive congenital ichthyosis (ARCI) is a rare hereditary cornification disorder presented with abnormal skin scaling. In this paper, we used next-generation sequencing to determine the variants in a Chinese ARCI patient. We used sanger sequencing to verify bidirectionally the DNA from t...

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Bibliographic Details
Main Authors: ZHANG Yingzi, XU Zhe, SHI Haitao, LIU Teng, ZHAO Yang
Format: Article
Language:zho
Published: Editorial Office of Journal of Rare Diseases 2022-07-01
Series:罕见病研究
Subjects:
autosomal recessive congenital ichthyosis
cyp4f22 gene
next-generation sequencing
pathogenic variant
genotype-phenotype
Online Access:https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2022.03.016

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https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2022.03.016

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