Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

Defects in genes mediating thyroid hormone biosynthesis result in dyshormonogenic congenital hypothyroidism (CH). Here, we report homozygous truncating mutations in SLC26A7 in 6 unrelated families with goitrous CH and show that goitrous hypothyroidism also occurs in Slc26a7-null mice. In both specie...

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Publicat a:JCI Insight
Autors principals: Cangul, Hakan, Liao, Xiao-Hui, Schoenmakers, Erik, Kero, Jukka, Barone, Sharon, Srichomkwun, Panudda, Iwayama, Hideyuki, Serra, Eva G., Saglam, Halil, Eren, Erdal, Tarim, Omer, Nicholas, Adeline K., Zvetkova, Ilona, Anderson, Carl A., Frankl, Fiona E. Karet, Boelaert, Kristien, Ojaniemi, Marja, Jääskeläinen, Jarmo, Patyra, Konrad, Löf, Christoffer, Williams, E. Dillwyn, Soleimani, Manoocher, Barrett, Timothy, Maher, Eamonn R., Chatterjee, V. Krishna, Refetoff, Samuel, Schoenmakers, Nadia
Format: Artigo
Idioma:Inglês
Publicat: American Society for Clinical Investigation 2018
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6237461/
https://ncbi.nlm.nih.gov/pubmed/30333321
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.99631
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