Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort

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 monogeni...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mary Ann Liebert, Inc. 2016
Materias:
Original StudiesThyroid Dysfunction: Hypothyroidism, Thyrotoxicosis, and Thyroid Function Tests
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5036323/
https://www.ncbi.nlm.nih.gov/pubmed/27373559
http://dx.doi.org/10.1089/thy.2016.0016

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