Two Cases of Thyroid Dysgenesis Caused by Different Novel PAX8 Mutations in the DNA-Binding Region: In Vitro Studies Reveal Different Pathogenic Mechanisms

Lignende værker

• Mutations in the NKX2.5 Gene and the PAX8 Promoter in a Girl with Thyroid Dysgenesis
  af: Hermanns, Pia, et al.
  Udgivet: (2011)
• Mutations in the NKX2.1 and the PAX8 genes in a boy with thyroid dysgenesis, respiratory and neurological disorders
  af: Hermanns, Pia, et al.
  Udgivet: (2015)
• A Single Copy of the Recently Identified Dual Oxidase Maturation Factor (DUOXA) 1 Gene Produces Only Mild Transient Hypothyroidism in a Patient with a Novel Biallelic DUOXA2 Mutation and Monoallelic DUOXA1 Deletion
  af: Hulur, Imge, et al.
  Udgivet: (2011)
• Congenital Hypothyroidism: Space–Time Clustering of Thyroid Dysgenesis Indicates a Role for Environmental Factors in Disease Etiology
  af: McNally, Richard J.Q., et al.
  Udgivet: (2021)
• Genetic testing of PAX8 mutations associated with thyroid dysgenesis in Chinese congenital hypothyroidism patients
  af: Miaomiao Li, et al.
  Udgivet: (2020-04-01)