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Article

Structural insights revealed by two novel THRB mutations.

Endocrine - 1 Apr 2020

Cardoso Ludmilla Ferreira, de Carvalho Melo Maria Clara, Takahashi Mirian Hideco, Nascimento Alessandro Silva, Chiamolera Maria Izabel, Maciel Léa Maria Zanini

Abstract excerpt

PURPOSE: Among the inheritable forms of impaired sensitivity to thyroid hormone, resistance to thyroid hormone (RTH) due to mutations in the thyroid hormone receptor beta gene (THRB) is the first and best known described defect, revealing a wide phenotypic variability with an incompletely understood physiopathology. The objective of this study was to evaluate two novel mutations in THRB, N331H and L346R, in an...

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PMID: 31902113
DOI: 10.1007/s12020-019-02177-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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