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Article

X-linked ichthyosis and Crigler-Najjar syndrome I: Coexistence in a male patient with two copy number variable regions of 2q37.1 and Xp22.3.

Molecular medicine reports - 1 Feb 2016

Bai Jinli, Qu Yujin, Cao Yanyan, Li Yan, Zhang Wenhui, Jin Yuwei, Wang Hong, Song Fang

Abstract excerpt

X-linked ichthyosis (XLI) is an X-linked recessive skin disorder generally restricted to males, which arises from mutations in the steroid sulfatase (STS) gene located on Xp22.3. Crigler-Najjar syndrome (CN-I) is a rare autosomal recessive disease caused by the homozygous or compound heterozygous mutations in the UPD‑glucuronosyltransferase 1 family, polypeptide A1 (UGT1A1) gene on chromosome 2q37. A male patient...

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Identifiers

PMID: 26676689
DOI: 10.3892/mmr.2015.4674
PMCID: PMC4732863

Genes

STS

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Source receipt: pubmed, retrieved 7 Sept 2026.

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