ArticleJournal of clinical research in pediatric endocrinology2022
A Novel Mutation in the Thyroglobulin Gene Resulting in Neonatal Goiter and Congenital Hypothyroidism in an Eritrean Infant
Article in Journal of clinical research in pediatric endocrinology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
6 citing papers in PubMed, 8 citations in OpenAlex.
- A novel homozygous thyroglobulin gene variant presenting with massive congenital goiter and neonatal airway obstruction.Hormones (Athens, Greece) · 2026Review
- Concomitant Mutations in the Thyroglobulin and SLC26A4 Genes Leading to Fetal Goiter and Congenital Hypothyroidism in a Patient With Pendred Syndrome.Case reports in endocrinology · 2025Article
- Structural features of thyroglobulin linked to protein trafficking.Protein science : a publication of the Protein Society · 2023Article
- Conservative Treatment of Fetal Goitrous Hypothyroidism Due to Thyroglobulin Mutations: A Case Report and Literature Review.Maternal-fetal medicine (Wolters Kluwer Health, Inc.) · 2023Article
- A glance at post-translational modifications of human thyroglobulin: potential impact on function and pathogenesis.European thyroid journal · 2022Review
- Case Report: Functional Analysis and Neuropsychological Evaluation of Dyshormonogenetic Fetal Goiter in Siblings Caused by Novel Compound Hyterozygous TPO Gene Mutations.Frontiers in endocrinology · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital hypothyroidism (CH) due to dyshormonogenesis may occur due to mutations in any of the key genes involved in thyroid hormone biosynthesis (
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.