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Article

[Identification of gene mutation and prenatal diagnosis in a family with X-linked ichthyosis].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Nov 2016

Huang Ji-Wei, Tang Ning, Li Wu-Gao, Li Zhe-Tao, Luo Shi-Qiang, Li Jing-Wen, Huang Jun, Yan Ti-Zhen

Abstract excerpt

X-linked ichthyosis (XLI) is a metabolic disease with steroid sulfatase deficiency and often occurs at birth or shortly after birth. The encoding gene of steroid sulfatase, STS, is located on the short arm of the X chromosome, and STS deletion or mutation can lead to the development of this disease. This study collected the data on the clinical phenotype from a family, and the proband, a boy aged 11 years with...

Topics

Child
Humans
Ichthyosis, X-Linked
Male
Mutation
Polymorphism, Single Nucleotide
Prenatal Diagnosis
Steryl-Sulfatase

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 27817780
PMCID: PMC7389852

Genes

STS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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