Genetics of Gland-in-situ or Hypoplastic Congenital Hypothyroidism in Macedonia
Author:
Funder
Wellcome Trust
Medical Research Council
Publisher
Frontiers Media SA
Subject
Endocrinology, Diabetes and Metabolism
Reference43 articles.
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3. Screening for congenital hypothyroidism: comparison of borderline screening cut-off points and the effect on the number of children treated with levothyroxine;Langham;Eur Thyroid J.,2013
4. Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism;Cangul;JCI Insight.,2018
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1. The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing;The Journal of Clinical Endocrinology & Metabolism;2023-03-08
2. Prevalence of congenital hypothyroidism in north macedonia: data from a newborn screening program conducted for twenty years;The Turkish Journal of Pediatrics;2023
3. Curating the gnomAD database: Report of novel variants in the thyroid peroxidase gene using in silico bioinformatics algorithms and a literature review;Molecular and Cellular Endocrinology;2022-12
4. Functional analysis of PAX8 variants identified in patients with congenital hypothyroidism in situ;CLIN PEDIATR ENDOCRI;2022
5. Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism;Endocrine;2022-09-20
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