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Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequenc...

Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequenc...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_7ae8be69f59b4d09aa8a467776a42a7e

Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing

About this item

Full title

Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing

Publisher

New Zealand: Dove Medical Press Limited

Journal title

Application of clinical genetics, 2024-12, Vol.17, p.205-214

Language

English

Formats

Publication information

Publisher

New Zealand: Dove Medical Press Limited

More information

Scope and Contents

Contents

Androgen insensitivity syndrome (AIS) is an X-linked genetic disorder caused by mutations in the androgen receptor gene (
), leading to impaired androgen signaling and resulting in varying degrees of undermasculinization in individuals with a 46,XY karyotype. This study aimed to expand the molecular landscape of AIS by identifying and characteri...

Alternative Titles

Full title

Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_7ae8be69f59b4d09aa8a467776a42a7e

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_7ae8be69f59b4d09aa8a467776a42a7e

Other Identifiers

ISSN

1178-704X

E-ISSN

1178-704X

DOI

10.2147/TACG.S498338

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