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E449X mutation in the thyroid hormone receptor beta associated with autoimmune thyroid disease and severe neuropsychomotor involvement.

Arquivos brasileiros de endocrinologia e metabologia - 1 Nov 2008

Gurgel Maria Helane Costa, Montenegro Junior Renan M, Magalhaes Rejane Araujo, Lima Grayce Ellen da C Paiva, Montenegro Renan Magalhães, Magalhães Patricia Kunzle Ribeiro, Maciel Lea Maria Zanini

Abstract excerpt

OBJECTIVE: To report the clinical and molecular aspects of a patient with a diagnosis of Resistance to Thyroid Hormone (RTH) harboring the E449X mutation associated with autoimmune thyroid disease and severe neuropsychomotor retardation. METHODS: We present a case report including clinical and laboratory findings, and molecular analysis of a Brazilian patient with RTH. RESULTS: A 23-year old male presented...

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PMID: 19169471
DOI: 10.1590/s0004-27302008000800002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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