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 hypotrichosis
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United States: University of California Digital Library - eScholarship
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Language
English
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United States: University of California Digital Library - eScholarship
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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...
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Identification of a novel mutation in the ST14 gene in an Iranian family with ichthyosis and hypotrichosis
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TN_cdi_proquest_miscellaneous_2210007709
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2210007709
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ISSN
1087-2108
E-ISSN
1087-2108
DOI
10.5070/D3253043345