Novel variants in familial exudative vitreoretinopathy patients with KIF11 mutations and the Genotype–Phenotype correlation

2020 ◽  
Vol 199 ◽  
pp. 108165
Author(s):  
Chonglin Chen ◽  
Limei Sun ◽  
Songshan Li ◽  
Li Huang ◽  
Ting Zhang ◽  
...  
Keyword(s):  
Phenotype Correlation ◽  
Familial Exudative Vitreoretinopathy ◽  
Genotype Phenotype Correlation ◽  
Novel Variants

Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation

2021 ◽  
pp. 108637
Author(s):  
Zhen Yi ◽  
Wenmin Sun ◽  
Xueshan Xiao ◽  
Shiqiang Li ◽  
Xiaoyun Jia ◽  
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Keyword(s):  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Novel Variants

scholarly journals Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy

2020 ◽  
Vol 61 (13) ◽  
pp. 2
Author(s):  
Maria F. Shurygina ◽  
Joseph M. Simonett ◽  
Maria A. Parker ◽  
Amanda Mitchell ◽  
Florin Grigorian ◽  
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Keyword(s):  
Phenotype Correlation ◽  
Familial Exudative Vitreoretinopathy ◽  
Genotype Phenotype Correlation

Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in theLRP5and/orFZD4genes

2005 ◽  
Vol 26 (2) ◽  
pp. 104-112 ◽  
Author(s):  
Minghui Qin ◽  
Hideyuki Hayashi ◽  
Kenji Oshima ◽  
Tomoko Tahira ◽  
Kenshi Hayashi ◽  
...  
Keyword(s):  
Phenotype Correlation ◽  
Familial Exudative Vitreoretinopathy ◽  
Genotype Phenotype Correlation

A familial case of osteogenesis imperfecta: study of genotype-phenotype correlation

2013 ◽  
Author(s):  
Ponti Emanuela ◽  
Mihalich Alessandra ◽  
Broggi Francesca ◽  
Maria Di Blasio Anna ◽  
Luisa Bianchi Maria
Keyword(s):  
Osteogenesis Imperfecta ◽  
Familial Case ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation
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