Resistance to Thyroid Hormone: Probable De Novo Mutation (P453S) in the Receptor Beta Gene

Resistance to Thyroid Hormone: Probable De Novo Mutation (P453S) in the Receptor Beta Gene

Resistance to thyroid hormone (RTH) is an inherited syndrome of reduced sensitivity to thyroid hormone (TH), usually due to mutations in the thyroid hormone receptor (TR) b‚ gene. We studied a Turkish family whose proband, a 19-year-old male, presented with diffuse goiter, nervousness, and palpitati...

Full description

Bibliographic Details
Main Authors: Banu Kale Köroğlu, Sunee Mamanasiry, Adem Küçük, Mehmet Numan Tamer, Ramazan Yılmaz, Samuel Refetoff
Format: Article
Language:English
Published: Turkiye Klinikleri 2009-12-01
Series:Turkish Journal of Endocrinology and Metabolism
Subjects:
Resistance to thyroid hormone
thyroid hormone receptor beta
mutation
Online Access:http://www.turkjem.org/eng/yazilar.asp?yaziid=608&sayiid=

Internet

http://www.turkjem.org/eng/yazilar.asp?yaziid=608&sayiid=

Similar Items