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A Spectrum of Severity of a Unifying Retinal Phenotype in TUBB4B-Associated Inherited Retinal Degeneration.

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Title: A Spectrum of Severity of a Unifying Retinal Phenotype in TUBB4B-Associated Inherited Retinal Degeneration.
Authors: Zhang S; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Avery RA; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.; Division of Ophthalmology, The Children's Hospital of Philadelphia, Philadelphia, PA., Wu V; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Sumaroka A; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Kim RJ; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Maripuri DP; Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Datz E; Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Weber ML; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Roman AJ; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Tsang SH; Edward S. Harkness Eye Institute, Department of Ophthalmology, Columbia University Irving Medical Center, New York-Presbyterian Hospital, New York, NY 10032, USA., Cideciyan AV; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Aleman TS; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.; Division of Ophthalmology, The Children's Hospital of Philadelphia, Philadelphia, PA., O'Neil EC; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.; Division of Ophthalmology, The Children's Hospital of Philadelphia, Philadelphia, PA.
Source: Retinal cases & brief reports [Retin Cases Brief Rep] 2026 Jan 22. Date of Electronic Publication: 2026 Jan 22.
Publication Type: Journal Article
Journal Info: Publisher: Wolters Kluwer Health Country of Publication: United States NLM ID: 101298744 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1937-1578 (Electronic) Linking ISSN: 19351089 NLM ISO Abbreviation: Retin Cases Brief Rep Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Zhang+S%22">Zhang S</searchLink>; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Avery+RA%22">Avery RA</searchLink>; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.; Division of Ophthalmology, The Children's Hospital of Philadelphia, Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Wu+V%22">Wu V</searchLink>; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Sumaroka+A%22">Sumaroka A</searchLink>; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Kim+RJ%22">Kim RJ</searchLink>; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Maripuri+DP%22">Maripuri DP</searchLink>; Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Datz+E%22">Datz E</searchLink>; Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Weber+ML%22">Weber ML</searchLink>; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Roman+AJ%22">Roman AJ</searchLink>; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Tsang+SH%22">Tsang SH</searchLink>; Edward S. Harkness Eye Institute, Department of Ophthalmology, Columbia University Irving Medical Center, New York-Presbyterian Hospital, New York, NY 10032, USA.<br /><searchLink fieldCode="AU" term="%22Cideciyan+AV%22">Cideciyan AV</searchLink>; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Aleman+TS%22">Aleman TS</searchLink>; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.; Division of Ophthalmology, The Children's Hospital of Philadelphia, Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22O'Neil+EC%22">O'Neil EC</searchLink>; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.; Division of Ophthalmology, The Children's Hospital of Philadelphia, Philadelphia, PA.
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