Condition: Ichthyosis, X-Linked


rs137853165 in STS gene and Ichthyosis, X-Linked PMID 10844566 2000 Novel point mutations in the steroid sulfatase gene in patients with X-linked ichthyosis: transfection analysis using the mutated genes.

PMID 10679952 2000 PCR diagnosis of X-linked ichthyosis: identification of a novel mutation (E560P) of the steroid sulfatase gene.

PMID 9252398 1997 Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein.

PMID 1539590 1992 Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis.