Identification of PENDRIN (SLC26A4) Mutations in Patients With Congenital Hypothyroidism and "Apparent" Thyroid Dysgenesis


Kuehnen P., Turan S., Froehler S., Gueran T., Abali S. , Biebermann H., et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.99, 2014 (SCI İndekslerine Giren Dergi)

  • Cilt numarası: 99 Konu: 1
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1210/jc.2013-2619
  • Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Özet

Context: Congenital hypothyroidism, the most frequent endocrine congenital disease, can occur either based on a thyroid hormone biosynthesis defect or can predominantly be due to thyroid dysgenesis. However, a genetic cause could so far only be identified in less than 10% of patients with a thyroid dysgenesis.