Very Severe Resistance to Thyroid Hormone β in One of Three Affected Members of a Family with a Novel Mutation in the THRB Gene

A 13-year-old female with a novel THRB gene mutation (c.1033G>T, p.G345C) presented with 3- to 6-fold higher serum iodothyronine levels and more severe clinical manifestation than 2 other family members carrying the same mutation. The leukocytes of the proband expressed both wild-type and mutant...

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Detalles Bibliográficos
Publicado en:Thyroid
Main Authors: Fujisawa, Haruki, Gagné, Julie, Dumitrescu, Alexandra M., Refetoff, Samuel
Formato: Artigo
Idioma:Inglês
Publicado: Mary Ann Liebert, Inc., publishers 2019
Assuntos:
Brief Reports on Novel Mutations Associated with Inherited Thyroid Disorders
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6797074/
https://ncbi.nlm.nih.gov/pubmed/31432759
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/thy.2019.0095
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