Article
The R450H mutation and D727E polymorphism of the thyrotropin receptor gene in a Chinese child with congenital hypothyroidism.
Journal of pediatric endocrinology & metabolism : JPEM - 1 Dec 2010
Ma Shao-gang, Fang Pei-hua, Hong Bing, Yu Wei-nan
Abstract excerpt
BACKGROUND: Congenital hypothyroidism (CH) is the most prevalent congenital endocrine disorder. The molecular cause of CH in the majority of newborns is unknown. The aim of this study was to investigate the mutation of thyrotropin receptor (TSHR) gene in Chinese children with congenital hypothyroidism (CH). and the hereditary characteristic. METHODS: Eighteen Chinese children with CH were enrolled for molecular...
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