Homozygous DUOXA2 mutation (p.Tyr138*) in a girl with congenital hypothyroidism and her apparently unaffected brother: Case report and review of the literature

Chiho Sugisawa, Shinji Higuchi, Masaki Takagi, Yukihiro Hasegawa, Matsuo Taniyama, Kiyomi Abe, Tomonobu Hasegawa, Satoshi Narumi

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