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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Bibliographic Details
Main Authors: Nikolina Zdraveska, Mirjana Kocova, Adeline K. Nicholas, Violeta Anastasovska, Nadia Schoenmakers
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-07-01
Series:Frontiers in Endocrinology
Subjects:
Online Access:https://www.frontiersin.org/article/10.3389/fendo.2020.00413/full