Associated Papers
Epigenetic, Genetic, and Functional Germline Alterations of PAX Genes in Human Pathology: A Comprehensive Update.
Gomez VL et al.
Current Issues in Molecular Biology, 2026
Functional Noncoding Variants in a TTTG Microsatellite on Chromosome 15q26.1 Are a Common Genetic Etiology of Congenital Hypothyroidism with Thyroid Gland in situ.
Shima H et al.
Hormone Research in Paediatrics, 2025
Functional analysis of PAX8 variants identified in patients with congenital hypothyroidism in situ.
Batjargal K et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2022
Targeted Next-Generation Sequencing for Congenital Hypothyroidism With Positive Neonatal TSH Screening.
Yamaguchi T et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Novel non-synonymous mutations of PAX8 in a cohort of Chinese with congenital hypothyroidism.
Qian F et al.
Chinese Medical Journal, 2019
Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population.
Liu S et al.
Oncotarget, 2017
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