A mutation in thyroid hormone receptor beta causing "resistance to thyroid hormone" in a neonate.

Cömert, S; Akin, Y; Vitrinel, A; Telatar, B; Agikuru, T; Gözü, H; Bircan, R; Turan, S

Cömert, S; Akin, Y; Vitrinel, A; Telatar, B; Agikuru, T; Gözü, H; Bircan, R; Turan, S.

Affiliation

Cömert S; Department of Pediatrics, Dr. Lütfi Kirdar Kartal Training and Research Hospital, Istanbul, Turkey. serdarcomert73@yahoo.com.tr

Minerva Pediatr ; 62(4): 419-22, 2010 Aug.

Article in En | MEDLINE | ID: mdl-20940675

Subject(s)

Mutation; Thyroid Hormone Receptors beta/genetics; Thyroid Hormone Resistance Syndrome/genetics; Exons/genetics; Eye Diseases/genetics; Humans; Hyperbilirubinemia/genetics; Infant, Newborn; Male; Pedigree; Polycythemia/genetics; Thyroid Hormone Resistance Syndrome/diagnosis

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Collection: 01-internacional Database: MEDLINE Main subject: Thyroid Hormone Resistance Syndrome / Thyroid Hormone Receptors beta / Mutation Type of study: Diagnostic_studies Limits: Humans / Male / Newborn Language: En Journal: Minerva Pediatr Year: 2010 Document type: Article Affiliation country: Turkey Country of publication: Italy

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