Art

J-GLOBAL ID：201702235490319916   Reference number：17A0268624

Alveolar capillary dysplasia with misalignment of the pulmonary veins due to novel insertion mutation of FOXF1

FOXF1の新規挿入突然変異による肺静脈のミスアラインメントを伴う肺胞毛細血管異形成

Author (5)： Nagano Nobuhiko (Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan) ,  Yoshikawa Kayo (Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan) ,  Hosono Shigeharu (Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan) ,  Takahashi Shori (Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan) ,  Nakayama Tomohiro (Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine, Tokyo, Japan)
Material： Pediatrics International (Web)  (Pediatr Int (Web))
Volume： 58  Issue： 12  Page： 1371-1372  Publication year： 2016 
JST Material Number： U0706A  ISSN： 1442-200X  Document type： Article
Article type： 短報  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： *vascular disease ,...
Semi thesaurus term： *肺胞毛細血管異形成 ,...

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Author keywords (5)： alveolar capillary dysplasia with misalignment of the pulmonary veins ,  coarctation of the aorta ,  congenital hydronephrosis ,  FOXF1 ,  pulmonary hypertension

JST classification (2)： Clinical gynecology and obstetrics in general  (GS01030W) ,  Cardiovascular system diseases  (GJ03000C)

Reference (4)：

• Janney CG, Askin FB, Kuhn C III. Congenital alveolar capillary dysplasia: An unusual cause of respiratory distress in the newborn. Am. J. Clin. Pathol. 1981; 76: 722-7.
• Singh SA, Ibrahim T, Clark DJ et al. Persistent pulmonary hypertension of newborn due to congenital capillary alveolar dysplasia. Pediatr. Pulmonol. 2005; 40: 349-53.
• Bishop NB, Stankiewicz P, Steinhorn RH. Alveolar capillary dysplasia. Am. J. Respir. Crit. Care Med. 2011; 184: 172-9.
• Stankiewicz P, Sen P, Bhatt SS et al. Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am. J. Hum. Genet. 2009; 84: 780-91.

Terms in the title (6)： 挿入突然変異 ,  肺静脈 ,  ミスアラインメント ,  肺胞 ,  毛細血管 ,  異形成