换一批Familial exudative vitreoretinopathy (FEVR) in a child with novel microarray-defined deletion of 11q14 previously diagnosed as retinopathy of prematurity (ROP).
第一作者：
Ashley,López-Cañizares
第一单位：
University of Miami Health System Bascom Palmer Eye Institute, Miami, Florida, USA.;Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida, USA.
作者：
医学主题词
女(雌)性(Female);婴儿, 新生(Infant, Newborn);儿童(Child);人类(Humans);早产儿视网膜病(Retinopathy of Prematurity);Frizzled受体(Frizzled Receptors);视网膜疾病(Retinal Diseases);基因检测(Genetic Testing);视网膜毛细血管扩张症(Retinal Telangiectasis);突变(Mutation);系谱(Pedigree);DNA突变分析(DNA Mutational Analysis)
DOI
10.1080/13816810.2022.2116648
PMID
36444989
发布时间
2023-05-24
- 浏览6
Ophthalmic genetics
313-317页
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