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

Kuehnen, Peter; Turan, Serap; Froehler, Sebastian; Gueran, Tuelay; Abali, Saygın; 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

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

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol.99, no.1, 2014 (Journal Indexed in SCI)

Publication Type: Article / Article
Volume: 99 Issue: 1
Publication Date: 2014
Doi Number: 10.1210/jc.2013-2619
Title of Journal : JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Abstract

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.