Article
Gene detection in a family with monilethrix and treatment with 5% topical minoxidil.
Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI) - 1 Jan 2023
Shen Qingli, Fu Zhonghua, Du Pengqiang, Wang Jianbo
Abstract excerpt
OBJECTIVE: To determine the causative gene mutation in a family with monilethrix and observe the therapeutic effect of 5% topical minoxidil. METHOD: Clinical data from a family with monilethrix were collected. Peripheral blood samples were taken from the proband, the parents, and 100 unrelated healthy controls. Genomic DNA was extracted. The genetic variation sites were screened with exome sequencing and verified...
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