STS pathogenic variants in a Dutch patient cohort clinically suspected for X-linked ichthyosis show genetic heterogeneity

Br J Dermatol. 2022 Nov;187(5):820-822. doi: 10.1111/bjd.21775. Epub 2022 Aug 11.

Authors

Ivo F Nagtzaam^{1

2}, Frank S van Leersum^{1

2}, Laurie C M Kouwenberg^{1

2}, Marinus J Blok^{2

3}, Maaike Vreeburg³, Peter M Steijlen^{1

2}, Antoni Gostyński^{1

2}, Michel van Geel^{1

2

3}

Affiliations

¹ Department of Dermatology.
² GROW-School for Oncology and Reproduction, Maastricht University, Maastricht, the Netherlands.
³ Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, the Netherlands.

Abstract

Publication types

Letter

MeSH terms

Cohort Studies
Genetic Heterogeneity*
Humans
Ichthyosis, X-Linked* / diagnosis
Ichthyosis, X-Linked* / genetics
Steryl-Sulfatase / genetics

Substances

Steryl-Sulfatase