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Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism.
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Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism.
Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism. JCI Insight. 2018 10 18; 3(20).
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PubMed
subject areas
Adult
Animals
Antiporters
Child
Child, Preschool
Codon, Nonsense
Congenital Hypothyroidism
DNA Mutational Analysis
Female
Goiter
HEK293 Cells
Homozygote
Humans
Male
Mice
Mice, Knockout
Middle Aged
Pedigree
Thyroid Gland
authors with profiles
Samuel Refetoff