Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-alpha Mutations

Demir, YAVUZ; VAN GUCHT, Anja; BUYUKINAN, Muammer; CATLI, Goenuel; AYHAN, YAVUZ; BAS, Veysel; Dundar, Bumin; OZKAN, Behzat; MEIMA, Marcel; VISSER, W.; PEETERS, Robin; VISSER, Theo

doi:10.1210/jc.2016-1404

Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-alpha Mutations

Demir K., VAN GUCHT A. L. M., BUYUKINAN M., CATLI G., AYHAN Y., BAS V. N., ...Daha Fazla

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.101, sa.8, ss.2945-2954, 2016 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 101 Sayı: 8
Basım Tarihi: 2016
Doi Numarası: 10.1210/jc.2016-1404
Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.2945-2954
Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
Hacettepe Üniversitesi Adresli: Evet

Özet

Context: Recently several patients with resistance to thyroid hormone (RTH)-alpha due to T-3 receptor-alpha (TR alpha) mutations were identified. The phenotype of these patients consists of varying degrees of growth impairment, delayed bone, mental and motor development, constipation, macrocephaly, and near-normal thyroid function tests.