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. , ...More

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol.101, no.8, pp.2945-2954, 2016 (SCI-Expanded) identifier identifier identifier


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.