ArticleClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology2018
Two siblings with congenital central hypothyroidism caused by a novel mutation in the
Article in Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 6 citations in OpenAlex.
- Identification of a NovelJournal of clinical research in pediatric endocrinology · 2026Article
- A Novel De Novo Nonsense Pathogenic Variant inJCEM case reports · 2025Article
- Article
- The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular GrowthJournal of clinical research in pediatric endocrinology · 2021Article
- Combined use of thyroid stimulating hormone plus free thyroxine levels and gestational age at birth for the prediction of neonatal hypothyroidism and associated risk factors.Experimental and therapeutic medicine · 2020Article
- Recent advances in research on isolated congenital central hypothyroidism.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2019Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
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Abstract
Genetic defects in the immunoglobulin superfamily member 1(IGSF1) protein are the cause of congenital central hypothyroidism (C-CH). Here we report two Japanese siblings with C-CH due to a novel
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Registered trials
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