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

Cangul, Hakan; Dogan, Murat; Saglam, Yaman; Kendall, Michaela; Boelaert, Kristien; Barrett, Timothy; Maher, Eamonn

doi:10.4274/jcrpe.1404

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, sa.3, ss.169-173, 2014 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 6 Sayı: 3
Basım Tarihi: 2014
Doi Numarası: 10.4274/jcrpe.1404
Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.169-173
Van Yüzüncü Yıl Üniversitesi Adresli: Evet

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.