Genetics of Gland-in-situ or Hypoplastic Congenital Hypothyroidism in Macedonia

Neonatal screening in Macedonia detects congenital hypothyroidism (CH) with an incidence of 1 in 1,585, and more than 50% of cases exhibit a normally located gland-in-situ (GIS). Monogenic mutations causing dyshormonogenesis may underlie GIS CH; additionally, a small proportion of thyroid hypoplasia...

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Detalles Bibliográficos
Autores principales: Zdraveska, Nikolina, Kocova, Mirjana, Nicholas, Adeline K., Anastasovska, Violeta, Schoenmakers, Nadia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7381236/
https://www.ncbi.nlm.nih.gov/pubmed/32765423
http://dx.doi.org/10.3389/fendo.2020.00413

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7381236/
https://www.ncbi.nlm.nih.gov/pubmed/32765423
http://dx.doi.org/10.3389/fendo.2020.00413

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