Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: New evidence for haploinsufficiency as a disease mechanism

Satoshi Narumi, Shunsuke Araki, Naoaki Hori, Koji Muroya, Yukiyo Yamamoto, Yumi Asakura, Masanori Adachi, Tomonobu Hasegawa

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22 Citations (Scopus)

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Medicine & Life Sciences