ArticleThe Yale journal of biology and medicine2023
Homozygous Mutations in Thyroid Peroxidase (TPO) in Hypothyroidism with Intellectual Disability, Developmental Delay, and Hearing and Ocular Anomalies in Two Families: Severe Manifestation of Untreated TPO-deficiency Poses a Diagnostic Dilemma.
Article in The Yale journal of biology and medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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Who cites it
4 citing papers in PubMed, 5 citations in OpenAlex.
- Spectrum and epidemiology of neurological disorders and neuromuscular anomalies in pediatric population of Sialkot, Pakistan.Pakistan journal of medical sciences · 2026Article
- Functional Domain Mapping of TPO: Insights From 6 Variants in Sudanese Kindreds With Congenital Hypothyroidism.The Journal of clinical endocrinology and metabolism · 2026Article
- Epidemiological Patterns of Neurological and Neuromuscular Disorders in the Potohar Region of Pakistan.Clinical medicine insights. Pediatrics · 2026Article
- Molecular detection of a novel mutation in theJournal of advanced veterinary and animal research · 2024Article
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 2 countries.
Funding
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Abstract
Intellectual disability (ID) involves compromised intellectual, learning and cognitive skills, and behavioral capabilities with reduced psychomotor skills. One of the preventable causes of ID is congenital hypothyroidism (CH), which may be due to biallelic mutations in
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Registered trials
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