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 İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 101 Konu: 8
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1210/jc.2016-1404
  • Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
  • Sayfa Sayıları: ss.2945-2954

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.