One Base Deletion (c.2422delT) in the TPO Gene Causes Severe Congenital Hypothyroidism


Cangul H., Dogan M. , Saglam Y., Kendall M., Boelaert K., Barrett T. G. , ...Daha Fazla

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.6, ss.169-173, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 6 Konu: 3
  • Basım Tarihi: 2014
  • Doi Numarası: 10.4274/jcrpe.1404
  • Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Sayfa Sayıları: ss.169-173

Özet

Objective: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and mutations in the TPO gene have been reported to cause CH. Our aim in this study was to determine the genetic basis of CH in two affected individuals coming from a consanguineous family.