Article
[Analysis of genetic variant in a case of sporadic neurofibromatosis type I with alopecia areata and vitiligo].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2021
Zhang Yuli, Wang Bin, Li Yexian, Li Yanjia, Zhang Guoqiang
Abstract excerpt
OBJECTIVE: To explore the genetic basis for a patient with clinically suspected neurofibromatosis type I, alopecia areata and vitiligo. METHODS: Variant of the NF1 gene was detected by chip capture and high-throughput sequencing. Candidate variant was verified by Sanger sequencing of the family trio. RESULTS: The patient was found to harbor a novel missense c.1885G>A (p.Gly629Arg) variant of the NF1 gene, for...
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