コレマツ　セイゴ   KOREMATSU Seigo   是松　聖悟    所属   埼玉医科大学  医学部 総合医療センター　小児科（小児科､総合周産期母子医療センター新生児科、小児救命救急センター）    職種   教授
論文種別	学術雑誌(原著)
言語種別	英語
査読の有無	査読あり
表題	A transient myelodysplastic/myeloproliferative neoplasm in a patient with cardio-facio-cutaneous syndrome and a germline BRAF mutation.
掲載誌名	正式名：American journal of medical genetics. Part A ISSNコード：15524825
出版社	WILEY-BLACKWELL
巻・号・頁	161A(10),2600-3頁
著者・共著者	Kazuhito Sekiguchi,Tomoki Maeda,So-ichi Suenobu,Nobutaka Kunisaki,Miki Shimizu,Kyoko Kiyota,Yo-suke Handa,Kensuke Akiyoshi,Seigo Korematsu,Yoko Aoki,Yoichi Matsubara,Tatsuro Izumi
発行年月	2013/10
概要	A male infant, born at 32 weeks gestation by cesarean because of hydrops fetalis, presented with multiple anomalies, such as sparse and curly scalp hair, absent eyebrows, frontal bossing, an atrial septal defect, pulmonary artery stenosis, and whole myocardial thickening. He was clinically diagnosed with cardio-facio-cutaneous (CFC) syndrome, and was confirmed to have a germline V-raf murine sarcoma viral oncogene homologue B1 (BRAF) c.721 A>C mutation. At 1 month of age, he presented with a transient myelodysplastic/myeloproliferative neoplasm (MDS/MPN), which improved within a month without the administration of antineoplastic agents. This is the first report of CFC syndrome withMDS/MPN. The coexistence of MDS/MPN may be related to this BRAF c.721 A>C mutation.
DOI	10.1002/ajmg.a.36107
PMID	23950000