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Search: authors:"Guizhi Zhou"

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Lipedematous alopecia: clinical and histological analysis of the first male Chinese

Background Lipedematous alopecia (LA) is a rare disorder clinically characterized by a thick boggy scalp and varying severity of hair loss, which primarily occurs in black female adults. In this study, we reported one male adult Chinese diagnosed with lipedematous alopecia for the first time. Case presentation A Chinese male, aged 20 years old, admitted to Shandong Provincial ...

Analysis of POFUT1 Gene Mutation in a Chinese Family with Dowling-Degos Disease

Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticular pigmented anomaly mainly affecting flexures. Though KRT5 has been identified to be the causal gene of DDD, the heterogeneity of this disease was displayed: for example, POFUT1 and POGLUT1 were recently identified and confirmed to be additional pathogenic genes of DDD. To identify other ...

Genome-Wide Linkage, Exome Sequencing and Functional Analyses Identify ABCB6 as the Pathogenic Gene of Dyschromatosis Universalis Hereditaria

Background As a genetic disorder of abnormal pigmentation, the molecular basis of dyschromatosis universalis hereditaria (DUH) had remained unclear until recently when ABCB6 was reported as a causative gene of DUH. Methodology We performed genome-wide linkage scan using Illumina Human 660W-Quad BeadChip and exome sequencing analyses using Agilent SureSelect Human All Exon Kits in a ...