Pulmonary atresia/ventricular septal defect associated with facial port-wine stain and retinal vascular abnormality: a new constellation or deletion in chromosome 22q11.2?
第一作者:
Koen,Devriendt
作者:
主题词
畸形, 多发性(Abnormalities, Multiple);染色体缺失(Chromosome Deletion);染色体, 人, 22对(Chromosomes, Human, Pair 22);诊断, 鉴别(Diagnosis, Differential);面部(Face);心脏缺损, 先天性(Heart Defects, Congenital);人类(Humans);葡萄酒色痣(Port-Wine Stain);肺动脉瓣闭锁(Pulmonary Atresia);视网膜血管(Retinal Vessels);综合征(Syndrome)
DOI
10.1002/ajmg.a.30458
PMID
15690382
发布时间
2020-09-30
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