Browsing by Series "JCI insight"
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Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism
(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 ...Tieteelliset aikakauslehtiartikkelit