Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis

CONTEXT: Congenital hypothyroidism (CH) is related to dyshormonogenesis in 15% to 40% of the world population and associated with homozygous or heterozygous variants in the main genes of the hormone synthesis pathway. Emerging diagnostic tools, such as next-generation sequencing (NGS), have been use...

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Detalles Bibliográficos
Autores principales: Oliver-Petit, Isabelle, Edouard, Thomas, Jacques, Virginie, Bournez, Marie, Cartault, Audrey, Grunenwald, Solange, Savagner, Frédérique
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8264654/
https://www.ncbi.nlm.nih.gov/pubmed/34248839
http://dx.doi.org/10.3389/fendo.2021.657913

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8264654/
https://www.ncbi.nlm.nih.gov/pubmed/34248839
http://dx.doi.org/10.3389/fendo.2021.657913

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