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Novel mutation in CTNNB1 causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature.
Coussa, Razek Georges; Zhao, Yue; DeBenedictis, Meghan J; Babiuch, Allison; Sears, Jonathan; Traboulsi, Elias I.
Affiliation
  • Coussa RG; Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA.
  • Zhao Y; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
  • DeBenedictis MJ; Cellular and Molecular Medicine, Cleveland Clinic, Cleveland, Ohio, USA.
  • Babiuch A; Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA.
  • Sears J; Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA.
  • Traboulsi EI; Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Ophthalmic Genet ; 41(1): 63-68, 2020 02.
Article in En | MEDLINE | ID: mdl-32039639
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Frameshift Mutation / Beta Catenin / Familial Exudative Vitreoretinopathies Type of study: Etiology_studies / Prognostic_studies Limits: Humans / Infant / Male Language: En Journal: Ophthalmic Genet Journal subject: GENETICA MEDICA / OFTALMOLOGIA Year: 2020 Document type: Article Affiliation country:
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Frameshift Mutation / Beta Catenin / Familial Exudative Vitreoretinopathies Type of study: Etiology_studies / Prognostic_studies Limits: Humans / Infant / Male Language: En Journal: Ophthalmic Genet Journal subject: GENETICA MEDICA / OFTALMOLOGIA Year: 2020 Document type: Article Affiliation country: