Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families

Dyshormonogenic congenital hypothyroidism (CH) generally results from biallelic defects in thyroid hormone synthesis genes. Whole exome sequencing allows easier identification of multiple gene defects. Two Sudanese families with CH resulting from oligogenic defects identified by whole exome sequenci...

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Detalhes bibliográficos
Publicado no:Thyroid
Main Authors: Watanabe, Yui, Bruellman, Ryan J., Ebrhim, Reham S., Abdullah, Mohamed A., Dumitrescu, Alexandra M., Refetoff, Samuel, Weiss, Roy E.
Formato: Artigo
Idioma:Inglês
Publicado em: Mary Ann Liebert, Inc., publishers 2019
Assuntos:
Brief Reports on Novel Mutations Associated with Inherited Thyroid Disorders
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6389765/
https://ncbi.nlm.nih.gov/pubmed/30375286
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/thy.2018.0295
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