Log in to save to my catalogue

Identification of a novel mutation in the ST14 gene in an Iranian family with ichthyosis and hypotri...

Identification of a novel mutation in the ST14 gene in an Iranian family with ichthyosis and hypotri...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2210007709

Identification of a novel mutation in the ST14 gene in an Iranian family with ichthyosis and hypotrichosis

About this item

Full title

Identification of a novel mutation in the ST14 gene in an Iranian family with ichthyosis and hypotrichosis

Publisher

United States: University of California Digital Library - eScholarship

Journal title

Dermatology online journal, 2019-03, Vol.25 (3)

Language

English

Formats

Publication information

Publisher

United States: University of California Digital Library - eScholarship

More information

Scope and Contents

Contents

Inherited ichthyosis is a heterogeneous group of rare cutaneous disorders characterized by hyperkeratosis and scaly skin. So far, only a few genetic studies on ichthyosis have been performed in Iran. Herein, we reported a family with two cases of ichthyosis and hypotrichosis that were investigated by whole exome sequencing. Targeted data analysis i...

Alternative Titles

Full title

Identification of a novel mutation in the ST14 gene in an Iranian family with ichthyosis and hypotrichosis

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_2210007709

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2210007709

Other Identifiers

ISSN

1087-2108

E-ISSN

1087-2108

DOI

10.5070/D3253043345

How to access this item