A New Locus for Autosomal Dominant Familial Exudative Vitreoretinopathy Maps to Chromosome 11p12-13
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
Reference17 articles.
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2. Familial exudative vitreoretinopathy;Benson;Trans Am Ophthalmol Soc,1995
3. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy;Chen;Nat Genet,1993
4. Norrie disease gene: characterisation of deletions and possible function;Chen;Genomics,1993
5. Familial exudative vitreoretinopathy;Criswick;Am J Ophthalmol,1969
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1. Frameshift variants in the C-terminal of CTNNB1 cause familial exudative vitreoretinopathy by AXIN1-mediated ubiquitin-proteasome degradation condensation;International Journal of Biological Macromolecules;2024-02
2. Early onset high myopia and severe anisometropia associated with familial exudative vitreoretinopathy of irregular dominant inheritance in 12 Chinese families:analysis of refraction features and pathogenic variations;2024-01-31
3. Identification of Five Novel Variants in the TSPAN12 Gene in Chinese Families With Familial Exudative Vitreoretinopathy;Translational Vision Science & Technology;2023-05-30
4. Clinical characteristics and mutation spectrum in 33 Chinese families with familial exudative vitreoretinopathy;Annals of Medicine;2022-11-21
5. Novel truncating variants inCTNNB1cause familial exudative vitreoretinopathy;Journal of Medical Genetics;2022-03-31
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