Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

The Kaohsiung journal of medical sciences - 1 Aug 2024

Tsai Ching-Chao, Chang Yu-Ming, Chou Yen-Yin, Chen Shou-Yen, Pan Yu-Wen, Tsai Meng-Che

Abstract excerpt

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 associated with TDH in Southern Taiwan using whole exome sequencing...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Autoantigens
Share to Congenital Hypothyroidism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dual Oxidases

Share to Iodide Peroxidase

Share to Iron-Binding Proteins

Share to Receptors, Thyrotropin

Share to Thyroglobulin

Share to Thyroid Dysgenesis

Source

Identifiers

PMID: 38923290
DOI: 10.1002/kjm2.12871

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of southern Taiwan genetic variants in thyroid dyshormonogenesis through whole-exome sequencing.PMID 38923290Read ↗

Clinical genetics of defects in thyroid hormone synthesisSemantic proximity Read ↗

Genetic evaluation of a group of patients with transient congenital hypothyroidism by targeted exome sequencing.Semantic proximity Read ↗

Targeted Next-Generation Sequencing for Congenital Hypothyroidism With Positive Neonatal TSH Screening.Semantic proximity Read ↗

DUOX2 variants are a frequent cause of congenital primary hypothyroidism in Thai patientsSemantic proximity Read ↗

Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism.Semantic proximity Read ↗

Clinical and genetic investigation in patients with permanent congenital hypothyroidism.Semantic proximity Read ↗

Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism.Semantic proximity Read ↗

Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.Semantic proximity Read ↗

Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism.Semantic proximity Read ↗

Genetic Etiology in Patients Diagnosed With Congenital Hypothroidism With New Generation Sequencing: a Single Center ExperienceSemantic proximity Read ↗

Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese Cohort.Semantic proximity Read ↗

High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.