Yazar "Jaaskelainen, Jarmo" için Araştırma Çıktıları | TR-Dizin | WoS | Scopus | PubMed listeleme
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Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism
Cangül, Hakan; Liao, Xiao-Hui; Schoenmakers, Erik; Kero, Jukka; Barone, Sharon; Srichomkwun, Panudda; Lwayama, Hideyuki; Serra, Eva G.; Sağlam, Halil; Eren, Erdal; Tarım, Ömer; Nicholas, Adeline K.; Zvetkova, Ilona; Anderson, Carl A.; Frankl, Fiona E. Karet; Boelaert, Kristien; Ojaniemi, Marja; Jaaskelainen, Jarmo; Patyra, Konrad; Lof, Christoffer; Williams, E. Dillwyn; Consortium, Ukk; Soleimani, Manoocher; Barrett, Timothy; Maher, Eamonn R.; Chatterjee, V. Krishna; Refetoff, Samuel; Schoenmakers, Nadia (American Society for Clinical Investigation Inc, 2018)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 ...