| Original language | English |
|---|---|
| Pages (from-to) | 190-192 |
| Number of pages | 3 |
| Journal | Pediatrics International |
| Volume | 61 |
| Issue number | 2 |
| DOIs |
|
| Publication status | Published - 2019 Feb 1 |
Keywords
- Hajdu–Cheney syndrome
- NOTCH2
- fatal complication
- idiopathic pulmonary hemosiderosis
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
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Fatal case of Hajdu–Cheney syndrome with idiopathic pulmonary hemosiderosis. / Sasaki, Kunihiro; Ito, Yoshinobu; Kawame, Hiroshi et al.
In: Pediatrics International, Vol. 61, No. 2, 01.02.2019, p. 190-192.Research output: Contribution to journal › Comment/debate › peer-review
}
TY - JOUR
T1 - Fatal case of Hajdu–Cheney syndrome with idiopathic pulmonary hemosiderosis
AU - Sasaki, Kunihiro
AU - Ito, Yoshinobu
AU - Kawame, Hiroshi
AU - Kikuchi, Atsuo
AU - Tanaka, Hiroshi
N1 - Funding Information: This research was supported by the Japan Agency for Medical Research and Development (AMED) through grant numbers JP17ek0109151 h0003 (Initiative on Rare and Undiagnosed Diseases [IRUD]). We thank Dr Tetsuya Niihori and Professor Yoko Aoki, Department of Medical Genetics, Tohoku University Graduate School of Medicine, Dr Matsuyuki Shirota, Division of Interdisciplinary Medical Sciences, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Drs Ryo Funayama and Keiko Nakayama, Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Drs Yoko Chiba, Kumi Ito, Miyuki Tsuda, Mami Kikuchi, Makiko Nakagawa, Yoko Tateda, and Kiyotaka Kuroda, Tohoku University Graduate School of Medicine, for providing technical assistance, Dr Yusuke Takezawa and Professor Shigeo Kure, Department of Pediatrics, Tohoku University Graduate School of Medicine, for providing supervision for genetic analysis, and also thank Drs Yutaka Suzuki and Manabu Kinjo, Department of Pediatrics, Hachinohe Municipal City Hospital, for managing this patient. Funding Information: This research was supported by the Japan Agency for Medical Research and Development (AMED) through grant numbers JP17ek0109151 h0003 (Initiative on Rare and Undiagnosed Diseases [IRUD]). We thank Dr Tetsuya Niihori and Professor Yoko Aoki, Department of Medical Genetics, Tohoku University Graduate School of Medicine, Dr Matsuyuki Shirota, Division of Interdisciplinary Medical Sciences, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Drs Ryo Funayama and Keiko Nakayama, Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Drs Yoko Chiba, Kumi Ito, Miyuki Tsuda, Mami Kikuchi, Makiko Nak-agawa, Yoko Tateda, and Kiyotaka Kuroda, Tohoku University Graduate School of Medicine, for providing technical assistance, Dr Yusuke Takezawa and Professor Shigeo Kure, Department of Pediatrics, Tohoku University Graduate School of Medicine, for providing supervision for genetic analysis, and also thank Drs Yutaka Suzuki and Manabu Kinjo, Department of Pediatrics, Hachinohe Municipal City Hospital, for managing this patient.
PY - 2019/2/1
Y1 - 2019/2/1
KW - Hajdu–Cheney syndrome
KW - NOTCH2
KW - fatal complication
KW - idiopathic pulmonary hemosiderosis
UR - http://www.scopus.com/inward/record.url?scp=85061619968&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85061619968&partnerID=8YFLogxK
U2 - 10.1111/ped.13764
DO - 10.1111/ped.13764
M3 - Comment/debate
C2 - 30767323
AN - SCOPUS:85061619968
VL - 61
SP - 190
EP - 192
JO - Pediatrics International
JF - Pediatrics International
SN - 1328-8067
IS - 2
ER -