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Article

X-linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations.

Journal of clinical laboratory analysis - 1 May 2020

Zhang Min, Huang Hailong, Lin Na, He Shuqiong, An Gang, Wang Yan, Chen Meihuan, Chen Lingji, Lin Yuan, Xu Liangpu

Abstract excerpt

BACKGROUND: X-linked ichthyosis (XLI) is the second most common type of ichthyosis, which is characterized by wide and symmetric distribution of adherent, dry, and polygonal scales on the skin. Steroid sulfatase (STS) gene, which is located at chromosome Xp22.31, has been identified as the pathogenic gene of XLI. METHODS: In this study, chromosome karyotype analysis, bacterial artificial chromosomes-on-Beads™...

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PMID: 31944387
DOI: 10.1002/jcla.23201
PMCID: PMC7246362

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Source receipt: pubmed, retrieved 7 Sept 2026.

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