Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism
SLC26A7基因纯合功能缺失突变会导致甲状腺肿性先天性甲状腺功能减退症
期刊:JCI Insight
影响因子:6.1
doi:10.1172/jci.insight.99631
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