首页> Pediatric reports> <i>PPP2R5D</i>-Related Neurodevelopmental Disorder and Multiple Haemangiomas: A Novel Phenotypic Trait?

<i>PPP2R5D</i>-Related Neurodevelopmental Disorder and Multiple Haemangiomas: A Novel Phenotypic Trait?

导出 OA

翻译打印收藏纠错

第一作者： Francesco,Comisi

第一单位： Pediatrics Department, Microcitemico Hospital "A. Cao", University of Cagliari, 09124 Cagliari, Italy.

作者： Francesco,Comisi ^[1] ; Consolata,Soddu ^[2] ; Francesco,Lai ^[3] ; Monica,Marica ^[2] ; Michela,Lorrai ^[4] ; Giancarlo,Mancuso ^[4] ; Sabrina,Giglio ^[5] ; Salvatore,Savasta ^[6]

作者单位： Pediatrics Department, Microcitemico Hospital "A. Cao", University of Cagliari, 09124 Cagliari, Italy. ^[1] Pediatric and Rare Diseases Clinic, Microcitemico Hospital "A. Cao", ASL 8 Cagliari, 09121 Cagliari, Italy. ^[2] Pediatric and Rare Diseases Clinic, Microcitemico Hospital "A. Cao", ASL 8 Cagliari, 09121 Cagliari, Italy.;Unit of Oncology and Molecular Pathology, Department of Biomedical Sciences, University of Cagliari, 09124 Cagliari, Italy. ^[3] Medical Genetics Unit, Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy. ^[4] Medical Genetics Unit, Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy.;Centre for Research University Services, University of Cagliari, 09124 Cagliari, Italy.;Medical Genetics, "R. Binaghi" Hospital, ASL 8 Cagliari, 09126 Cagliari, Italy. ^[5] Pediatric and Rare Diseases Clinic, Microcitemico Hospital "A. Cao", Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy. ^[6]

关键词 Jordan’s syndrome PI3K/AKT signalling pathway PPP2R5D haemangiomas

DOI 10.3390/pediatric16040101

PMID 39728742

发布时间 2025-01-04

翻译满意度评价：

准确一般字义偏差语意偏离译文作用小提交