Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort
Thyroid2016Vol. 26(9), pp. 1215–1224
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Christoffer Löf, Konrad Patyra, Teemu Kuulasmaa, Jagadish Vangipurapu, Henriette Undeutsch, Holger Jaeschke, Tuulia Pajunen, Andreina Kero, Heiko Krude, Heike Biebermann, Gunnar Kleinau, Peter Kühnen, Krista Rantakari, Päivi J. Miettinen, Turkka Kirjavainen, Juha‐Pekka Pursiheimo, Taina Mustila, Jarmo Jääskeläinen, Marja Ojaniemi, Jorma Toppari, Jaakko Ignatius, Markku Laakso, Jukka Kero
Abstract
In summary, the CH panel provides an efficient, cost-effective, and multigenic screening tool for both known and novel CH gene mutations. Hence, it may be a useful method to identify accurately the genetic etiology for dyshormogenic, familial, or syndromic forms of CH.
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