Associated Papers
Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism.
Li L et al.
Endocrine, 2023
Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.
Park KS
Genes, 2021
34200080 (PubMed )
Supplement: genes-12-00863-s001.zip › Supplementary_Files_Rev1_v20210529_.xlsx › Table_S3
Congenital Primary Hypothyroidism with the Homozygous Nonsense Mutation P.K1374* in the Thyroglobulin Gene and a Normal-sized Thyroid Gland on Levothyroxine Replacement.
Mizokami T et al.
Internal Medicine (tokyo, Japan), 2019
Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism.
Cangul H et al.
Endocrine, 2014
Importance of molecular genetic analysis in the diagnosis and classification of congenital hypothyroidism.
Targovnik HM
Endocrine, 2014
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