High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism

OBJECTIVE: Results of the screening of disease causative mutations in congenital hypothyroidism (CH) vary significantly, depending on the sequence strategy, patients’ inclusion criteria and bioinformatics. The objective was to study the molecular basis of severe congenital hypothyroidism, using the...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Makretskaya, Nina, Bezlepkina, Olga, Kolodkina, Anna, Kiyaev, Alexey, Vasilyev, Evgeny V., Petrov, Vasily, Kalinenkova, Svetlana, Malievsky, Oleg, Dedov, Ivan I., Tiulpakov, Anatoly
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2018
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6150524/
https://ncbi.nlm.nih.gov/pubmed/30240412
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0204323
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