Thyroid dysgenesis caused by PAX8 mutation: The hypermutability with CpG dinucleotides at codon 31
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology and Child Health
Reference9 articles.
1. Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia;Clifton-Bligh;Nat Genet,1998
2. Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure;Devriendt;N Engl J Med,1998
3. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis;Macchia;Nat Genet,1998
4. Crystal structure of paired domain-DNA complex at 2.5Å resolution reveals structural basis for Pax development mutation;Xu;Cell,1995
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1. Initial screening of the rs104893657 variant of the PAX8 gene in women with hypothyroidism from Northeastern Slovakia;Central European Journal of Public Health;2023-12-31
2. A case of syndromic congenital hypothyroidism with a 15.2 Mb interstitial deletion on 2q12.3q14.2 involving PAX8;CLIN PEDIATR ENDOCRI;2023
3. A case of syndromic congenital hypothyroidism with a 15.2 Mb interstitial deletion on 2q12.3q14.2 involving <i>PAX8</i>;Clinical Pediatric Endocrinology;2023
4. DNA methylation at a nutritionally sensitive region of the PAX8 gene is associated with thyroid volume and function in Gambian children;Science Advances;2021-11-05
5. The mutation screening in candidate genes related to thyroid dysgenesis by targeted next‐generation sequencing panel in the Chinese congenital hypothyroidism;Clinical Endocrinology;2021-08-09
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