Author/Editor		Avbelj, Magdalena; Trebušak-Podkrajšek, Katarina; Bratanič, Nina; Kržišnik, Ciril; Battelino, Tadej
Title		Molecular diagnostics of congenital hypothyroidism
Translated title		Molekularna diagnostika pri kongenitalni hipotireozi
Type		članek
Source		In: Luzar B, Poljak M, Glavač D, et al, editors. Molekularna diagnostika v medicini. Zbornik 15. spominsko srečanje akademika Janeza Milčinskega, 36. memorialni sestanek profesorja Janeza Plečnika, 1. srečanje Slovenskega društva za humano genetiko z mednarodno udeležbo; 2005 30 nov - 2 dec; Ljubljana. Ljubljana: Medicinska fakulteta,
Publication year		2005
Volume		str. 263-7
Language		eng
Abstract		Congenital hypothyroidism is a congenital endocrine disorder with severe consequences if not treated. A short overview of the known causative molecular defects is presented. Molecular analysis of the TPO gene was recently introduced at the Centre for Medical Genetics at the University Children's Hospital Ljubljana. TPO gene analysis is being performed in patients with thyroid dyshormonogenesis. The methods used and results obtained in the investigated population are explained.
Descriptors		HYPOTHYROIDISM POLYMERASE CHAIN REACTION