Identification of PENDRIN (SLC26A4) Mutations in Patients With Congenital Hypothyroidism and

Kuehnen, Peter; DEMİRCİOĞLU, SERAP; Froehler, Sebastian; GÜRAN, TÜLAY; ABALI, SAYGIN; Biebermann, Heike; BEREKET, ABDULLAH; Grueters, Annette; Chen, Wei; Krude, Heiko

doi:10.1210/jc.2013-2619

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

Kuehnen P., DEMİRCİOĞLU S., Froehler S., GÜRAN T., ABALI S., Biebermann H., ...Daha Fazla

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.99, sa.1, 2014 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 99 Sayı: 1
Basım Tarihi: 2014
Doi Numarası: 10.1210/jc.2013-2619
Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır

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.