Browsing by Author "Serra, EG"

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

      Cangul, H; Liao, XH; Schoenmakers, E; Kero, J; Barone, S; Srichomkwun, P; Iwayama, H; Serra, EG; Saglam, H; Eren, E; Tarim, O; Nicholas, AK; Zvetkova, I; Anderson, CA; Frankl, FE; Boelaert, K; Ojaniemi, M; Jääskeläinen, J; Patyra, K; Löf, C; et al (American Society for Clinical Investigation, 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 ...
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