A Novel Homozygous Selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2, SBP2) Gene Mutation in a Turkish Boy

SECISBP2 is an essential factor in selenoprotein synthesis, and its mutations result in a multiorgan syndrome, including abnormal thyroid hormone metabolism. A 10-year-old obese Turkish boy born to consanguineous parents presented with high thyroxine, low triiodothyronine, high reverse triiodothyron...

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Detalhes bibliográficos
Publicado no:Thyroid
Main Authors: Çatli, Gönül, Fujisawa, Haruki, Kirbiyik, Özgür, Mimoto, Mizuho S., Gençpinar, Pinar, Özdemir, Taha Reşid, Dündar, Bumin Nuri, Dumitrescu, Alexandra M.
Formato: Artigo
Idioma:Inglês
Publicado em: Mary Ann Liebert, Inc., publishers 2018
Assuntos:
Brief Report on Novel Mutations Associated with Inherited Thyroid Disorders
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6154453/
https://ncbi.nlm.nih.gov/pubmed/29882503
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/thy.2018.0015
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