Article

A novel STS mutation and an Xp22.3 microdeletion from one Chinese family with X-linked ichthyosis

2020-07-15

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold> X-linked ichthyosis (XLI, OMIM# 308100) is a relatively common type of skin disorder, characterized by widespread, dark brown, polygonal scales and generalized dryness. Most patients (90%) are contributed to genomic deletion of the entire <italic>STS</italic> (steroid sulfatase) gene encoding steroid sulfatase, with the remaining cases being caused by point mutat...

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Literature Corpus work: bc2829bb-9124-5045-a714-d434c9ab4b7c
DOI: 10.21203/rs.3.rs-23257/v1

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