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

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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) identifier identifier identifier

  • 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
  • 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.