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Article

Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor α Gene (pC380SfsX9) Mutation.

Thyroid : official journal of the American Thyroid Association - 1 Jun 2021

Furman Ary E, Dumitrescu Alexandra M, Refetoff Samuel, Weiss Roy E

Abstract excerpt

Resistance to thyroid hormone alpha (RTHα) is caused by mutations in thyroid hormone receptor α (THRA). Little is known about the natural history and treatment of RTHα, and diagnosis before the age of 1 year has not been previously reported. A de novo heterozygous THRA mutation (pC380SfsX9) was identified in a 10-month-old female investigated for developmental delay, hypotonia, macrocephaly, and severe...

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Identifiers

PMID: 33198587
DOI: 10.1089/thy.2020.0695
PMCID: PMC8215396

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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