Most "sporadic" cases of X-linked ichthyosis are not de novo mutations.

doi:10.1080/000155599750011381

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Article

Most "sporadic" cases of X-linked ichthyosis are not de novo mutations.

Acta dermato-venereologica - 1 Mar 1999

Cuevas-Covarrubias S A, Valdes-Flores M, Orozco Orozco E, Díaz-Zagoya J C, Kofman-Alfaro S H

Abstract excerpt

X-linked ichthyosis is an inherited disease with dark, regular and adherent scales as clinical characteristics. It is caused by a deficiency of the steroid sulphatase enzyme. Steroid sulphatase assay is a relative easy tool that enables correct diagnosis of X-linked ichthyosis patients and carriers. A large number of X-linked ichthyosis patients correspond to non-familial cases that seem to represent de novo...

Topics

Arylsulfatases
Female
Humans
Ichthyosis, X-Linked
Male
Mutation
Pedigree
Steryl-Sulfatase

Source

Open in PubMed

Identifiers

PMID: 10228635
DOI: 10.1080/000155599750011381

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

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