Article
Genetics of specific phenotypes of congenital hypothyroidism: a population-based approach.
Thyroid : official journal of the American Thyroid Association - 1 Nov 2002
Calaciura Francesca, Miscio Giueppe, Coco Angelo, Leonardi Daniela, Cisternino Carmela, Regalbuto Concetto, Bozzali Maura, Maiorana Raffaella, Ranieri Annalisa, Carta Anna, Buscema Massimo, Trischitta Vincenzo, Sava Lidia, Tassi Vittorio
Abstract excerpt
Congenital hypothyroidism (CH) may cause severe and irreversible neurologic and developmental abnormalities when not recognized early. Many millions of newborns have now been screened and many thousands of patients with CH have been identified. Approximately 80%-85% have defects of thyroid gland development, while 15%-20% have congenital errors of thyroid hormone biosynthesis. An entire population screened for CH...
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