A novel mutation in the PAX8 promoter region causes permanent congenital hypothyroidism in a patient with Down’s Syndrome

Podobne zapisy

• Mutations in the NKX2.1 and the PAX8 genes in a boy with thyroid dysgenesis, respiratory and neurological disorders
  od: Hermanns, Pia, i wsp.
  Wydane: (2015)
• Mutations in the NKX2.5 Gene and the PAX8 Promoter in a Girl with Thyroid Dysgenesis
  od: Hermanns, Pia, i wsp.
  Wydane: (2011)
• Determination of thyroid volume in infants with suspected congenital hypothyroidism—the limitations of both subjective and objective evaluation
  od: Mansour, Chourouk, i wsp.
  Wydane: (2020)
• Structural defects of a Pax8 mutant that give rise to congenital hypothyroidism.
  od: Tell, G, i wsp.
  Wydane: (1999)
• Factors associated with permanent hypothyroidism in infants with congenital hypothyroidism
  od: Park, Eun Sil, i wsp.
  Wydane: (2019)