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. , ...More

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, vol.6, no.3, pp.169-173, 2014 (SCI-Expanded) identifier identifier identifier

Abstract

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.