A Novel Germline Mutation of KEAP1 (R483H) Associated with a Non-Toxic Multinodular Goiter

BACKGROUND: A germline mutation of KEAP1 gene was reported as a novel genetic abnormality associated with familial multinodular goiter. That report was limited, and the pathogenic features were not well established. PATIENT FINDINGS: We report a 47-year-old Japanese woman who presented with hyperthy...

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Detalhes bibliográficos
Publicado no:Front Endocrinol (Lausanne)
Main Authors: Nishihara, Eijun, Hishinuma, Akira, Kogai, Takahiko, Takada, Nami, Hirokawa, Mitsuyoshi, Fukata, Shuji, Ito, Mitsuru, Yabuta, Tomonori, Nishikawa, Mitsushige, Nakamura, Hirotoshi, Amino, Nobuyuki, Miyauchi, Akira
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2016
Assuntos:
Endocrinology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5028897/
https://ncbi.nlm.nih.gov/pubmed/27703446
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fendo.2016.00131
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