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A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism

Monica Malheiros Franca,Lucy Reeve,Alexandra M. Dumitrescu,Martin de Bock,Samuel Refetoff

THYROID（2022）

Cited 0|Views21
Key words
congenital hypothyroidism,PAX8,paired DNA-binding domain,pathogenic variant
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