Molecular study of X-linked ichthyosis: report of a novel 2-bp insertion mutation in the STS and a very rare case of homozygous female patient

J Dermatol Sci. 2014 May;74(2):165-7. doi: 10.1016/j.jdermsci.2013.12.012. Epub 2014 Jan 14.

Authors

Ghulam Murtaza¹, Sumaira Siddiq¹, Suliman Khan¹, Sofia Hussain¹, Muhammad Naeem²

Affiliations

¹ Department of Biotechnology, Quaid-i-Azam University, Islamabad, Pakistan.
² Department of Biotechnology, Quaid-i-Azam University, Islamabad, Pakistan. Electronic address: mnaeemqau@gmail.com.

PMID: 24480088
DOI: 10.1016/j.jdermsci.2013.12.012

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Child
Female
Homozygote
Humans
Ichthyosis, X-Linked / genetics*
Male
Mutagenesis, Insertional
Steryl-Sulfatase / genetics*

Substances

STS protein, human
Steryl-Sulfatase