Presentation Information
[P1-03-07]Identification of a hemizygous IRS4 pathogenic variant in a Japanese patient with central congenital hypothyroidism
Sumito Dateki1,2, Midori Motokawa2, Haruka Kawamura2, Kohei Haraguchi2, Yukino Kashiwabara3, Riko Matsuda3, Hiroyuki Mishima4, Koh-ichiro Yoshiura4 (1. Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, 2. Department of Pediatrics, Nagasaki University Hospital, 3. Department of Genetic Counseling, Clinical Genomics Center, Nagasaki University Hospital, 4. Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences)
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