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Article

A new POLH mutation in a consanguineous Chinese family with xeroderma pigmentosum variant type.

Clinical and experimental dermatology - 1 Nov 2022

OuYang Xiaoliang, Zhang Deng, Wang Xiuping, Yu Simin, Xiao Zhen, Li Chunming

Abstract excerpt

We report a Chinese consanguineous family with a variant type of xeroderma pigmentosum (XPV), and identified one novel mutation in the patient. Our study expands the mutational spectrum of XPV. Click here for the corresponding questions to this CME article.

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PMID: 35984432
DOI: 10.1111/ced.15313

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