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Novel variant in FGFR2 in a family with anterior segment anomalies.

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Title: Novel variant in FGFR2 in a family with anterior segment anomalies.
Authors: Chattannavar G; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, Rochester, New York, USA.; Jasti V Ramanamma Children's Eye Care Centre, Child Sight Institute, L V Prasad Eye Institute, Hyderabad, India., Haefeli LM; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, Rochester, New York, USA.; The University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa, USA., Procopio R; Pediatric Ophthalmology & Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania, USA., Reis LM; Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Milwaukee, Wisconsin, USA., Capasso JE; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, Rochester, New York, USA.; Clinical Genetics, Golisano Children's Hospital, University of Rochester, Rochester, New York, USA., Thuma TBT; Pediatric Ophthalmology & Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania, USA., Semina EV; Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Milwaukee, Wisconsin, USA., Schneider A; Pediatric Ophthalmology & Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania, USA., Levin AV; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, Rochester, New York, USA.; Clinical Genetics, Golisano Children's Hospital, University of Rochester, Rochester, New York, USA.
Source: Ophthalmic genetics [Ophthalmic Genet] 2026 Jun; Vol. 47 (3), pp. 304-308. Date of Electronic Publication: 2026 Jan 04.
Publication Type: Journal Article; Case Reports; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: Novel variant in FGFR2 in a family with anterior segment anomalies.
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  Data: <searchLink fieldCode="AU" term="%22Chattannavar+G%22">Chattannavar G</searchLink>; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, Rochester, New York, USA.; Jasti V Ramanamma Children's Eye Care Centre, Child Sight Institute, L V Prasad Eye Institute, Hyderabad, India.<br /><searchLink fieldCode="AU" term="%22Haefeli+LM%22">Haefeli LM</searchLink>; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, Rochester, New York, USA.; The University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa, USA.<br /><searchLink fieldCode="AU" term="%22Procopio+R%22">Procopio R</searchLink>; Pediatric Ophthalmology & Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Reis+LM%22">Reis LM</searchLink>; Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.<br /><searchLink fieldCode="AU" term="%22Capasso+JE%22">Capasso JE</searchLink>; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, Rochester, New York, USA.; Clinical Genetics, Golisano Children's Hospital, University of Rochester, Rochester, New York, USA.<br /><searchLink fieldCode="AU" term="%22Thuma+TBT%22">Thuma TBT</searchLink>; Pediatric Ophthalmology & Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Semina+EV%22">Semina EV</searchLink>; Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.<br /><searchLink fieldCode="AU" term="%22Schneider+A%22">Schneider A</searchLink>; Pediatric Ophthalmology & Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Levin+AV%22">Levin AV</searchLink>; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, Rochester, New York, USA.; Clinical Genetics, Golisano Children's Hospital, University of Rochester, Rochester, New York, USA.
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  Data: <searchLink fieldCode="JN" term="%229436057%22">Ophthalmic genetics</searchLink> [Ophthalmic Genet] 2026 Jun; Vol. 47 (3), pp. 304-308. <i>Date of Electronic Publication: </i>2026 Jan 04.
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  Data: Journal Article; Case Reports; Research Support, Non-U.S. Gov't
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Informa+Healthcare%22">Informa Healthcare </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9436057 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1744-5094 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2213816810%22">13816810 </searchLink><i>NLM ISO Abbreviation: </i>Ophthalmic Genet <i>Subsets: </i>MEDLINE
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      – Type: doi
        Value: 10.1080/13816810.2025.2611116
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      – Code: eng
        Text: English
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      – TitleFull: Novel variant in FGFR2 in a family with anterior segment anomalies.
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            – D: 01
              M: 06
              Text: 2026 Jun
              Type: published
              Y: 2026
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