Additional file 1 of Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis
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Supplementary Material 1: Table S1 ABCC6 Patient Database (Additional file 1 table S1.xlsx). All patients (N=95) and their ABCC6 genotype, demographics, diagnosis, survival outcome, and published phenotypes. ACA=anterior cerebral artery; AIS=arterial ischemic stroke; CNS=central nervous system; F=female; GACI= Generalized arterial calcification of infancy; HIE=Hypoxic ischemic encephalopathy; ICA=internal carotid artery; IVC=inferior vena cava; LCA=left main coronary artery; LA=left atrium; LV=left ventricle; M=male; MCA=middle cerebral artery; PCA=posterior cerebral artery; PDA=patent ductus arteriosus; PFO=patent foramen ovale; PICA=posterior inferior cerebellar artery; PPHN=persistent pulmonary hypertension of the newborn; PXE=pseudoxanthoma elasticum; RCA=right coronary artery; RV=right ventricle; VUS=variant of uncertain significance
提供机构：
Mughal, M. Zulf; Ferreira, Carlos R.; Liao, Yaping Joyce; Bertamino, Marta; Pabst, Lisa; Sun, Lisa R.; Goldberg, David J.; du Moulin, Ruth; Swanner, Katie; Ziegler, Shira G.; Beckwell, Jane; Kozaric, Amina
创建时间：
2025-11-20
