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Next-generation sequencing through multi-gene panel testing for diagnosis of hereditary ichthyosis in Chinese.

Clinical genetics - 1 May 2020

Cheng Ruhong, Liang Jianying, Li Yue, Zhang Jia, Ni Cheng, Yu Hong, Kong Xiangsheng, Li Ming, Yao Zhirong

Abstract excerpt

Inherited ichthyoses are a heterogeneous group of rare disorders related to over 40 genes. To identify underlying molecular causes in inherited ichthyosis among Chinese and to correlate genotype and phenotype, 35 probands clinically diagnosed inherited ichthyosis, except ichthyosis vulgaris and X-linked ichthyosis, were included in our study. Molecular analysis was performed using next-generation sequencing (NGS)...

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PMID: 31953843
DOI: 10.1111/cge.13704

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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