Novel splice site mutation in GATA3 in a          patient with HDR syndrome

Mutation-in-Brief

Novel splice site mutation in GATA3 in a patient with HDR syndrome

Author information

Kumihiro Matsuo
Department of Pediatrics, Asahikawa Medical University, Hokkaido, Japan
Arisa Kobayashi
Department of Endocrinology and Metabolism, Tokyo Teishin Hospital, Tokyo, Japan
Yusuke Tanahashi
Department of Pediatrics, Asahikawa Medical University, Hokkaido, Japan
Satoko Maruyama
Department of Endocrinology and Metabolism, Tokyo Teishin Hospital, Tokyo, Japan
Yoshihiro Niitsu
Department of Endocrinology and Metabolism, Tokyo Teishin Hospital, Tokyo, Japan
Hidenori Katsuta
Department of Endocrinology and Metabolism, Tokyo Teishin Hospital, Tokyo, Japan
Akiko Furuya
Department of Pediatrics, Asahikawa Medical University, Hokkaido, Japan
Shigeru Suzuki
Department of Pediatrics, Asahikawa Medical University, Hokkaido, Japan
Mitsunobu Kawamura
Department of Endocrinology and Metabolism, Tokyo Teishin Hospital, Tokyo, Japan
Hiroshi Azuma
Department of Pediatrics, Asahikawa Medical University, Hokkaido, Japan

JOURNAL OPEN ACCESS

2017 Volume 26 Issue 4 Pages 271-273

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