R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children

The most common congenital endocrine disorder, congenital hypothyroidism (CHT), is strongly associated with thyroid hormone deficiency. Previous studies have indicated that mutations of thyroid stimulation hormone receptor (TSHR) are a risk factor for the development of congenital hypothyroidism. On...

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Veröffentlicht in:	Clinica chimica acta 2012-06, Vol.413 (11-12), p.1004-1007
Hauptverfasser:	Chang, Wei-Chiao, Liao, Cheng-Yu, Chen, Wei-Chiao, Fan, Yung-Ching, Chiu, Siou-Jin, Kuo, Ho-Chang, Woon, Peng-Yeong, Chao, Mei-Chyn
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Asian Continental Ancestry Group - genetics Child Child, Preschool Congenital hypothyroidism Congenital Hypothyroidism - etiology Congenital Hypothyroidism - genetics Female Gene Frequency Genetic mutation Heterozygote Homozygote Humans Infant Infant, Newborn Male Mutation Receptors, Thyrotropin - genetics Reference Values Taiwan Thyrotropin - blood TSH receptor Young Adult
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