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Identification of southern Taiwan genetic variants in thyroid dyshormonogenesis through whole‐exome...

Identification of southern Taiwan genetic variants in thyroid dyshormonogenesis through whole‐exome...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e7f56a02f1c74addb7ca971916f3c320

Identification of southern Taiwan genetic variants in thyroid dyshormonogenesis through whole‐exome sequencing

About this item

Full title

Identification of southern Taiwan genetic variants in thyroid dyshormonogenesis through whole‐exome sequencing

Publisher

BP, Asia: Wiley Publishing Asia Pty Ltd

Journal title

The Kaohsiung journal of medical sciences, 2024-08, Vol.40 (8), p.744-756

Language

English

Formats

Publication information

Publisher

BP, Asia: Wiley Publishing Asia Pty Ltd

More information

Scope and Contents

Contents

Thyroid dyshormonogenesis (TDH) is responsible for 15%–25% of congenital hypothyroidism (CH) cases. Pathogenetic variants of this common inherited endocrine disorders vary geographically. Unraveling the genetic underpinnings of TDH is essential for genetic counseling and precise therapeutic strategies. This study aims to identify genetic variants a...

Alternative Titles

Full title

Identification of southern Taiwan genetic variants in thyroid dyshormonogenesis through whole‐exome sequencing

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_e7f56a02f1c74addb7ca971916f3c320

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e7f56a02f1c74addb7ca971916f3c320

Other Identifiers

ISSN

1607-551X,2410-8650

E-ISSN

2410-8650

DOI

10.1002/kjm2.12871

How to access this item