Article
Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort.
Thyroid : official journal of the American Thyroid Association - 1 Sept 2016
Löf Christoffer, Patyra Konrad, Kuulasmaa Teemu, Vangipurapu Jagadish, Undeutsch Henriette, Jaeschke Holger, Pajunen Tuulia, Kero Andreina, Krude Heiko, Biebermann Heike, Kleinau Gunnar, Kühnen Peter, Rantakari Krista, Miettinen Päivi, Kirjavainen Turkka, Pursiheimo Juha-Pekka, Mustila Taina, Jääskeläinen Jarmo, Ojaniemi Marja, Toppari Jorma, Ignatius Jaakko, Laakso Markku, Kero Jukka
Abstract excerpt
BACKGROUND: Congenital hypothyroidism (CH) is defined as the lack of thyroid hormones at birth. Mutations in at least 15 different genes have been associated with this disease. While up to 20% of CH cases are hereditary, the majority of cases are sporadic with unknown etiology. Apart from a monogenic pattern of inheritance, multigenic mechanisms have been suggested to play a role in CH. The genetics of CH has not...
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