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Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations.

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Title: Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations.
Authors: Miraldi Utz V; Abrahamson Pediatric Eye Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Ophthalmology, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Brightman DS; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Sandoval MA; Abrahamson Pediatric Eye Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Hufnagel RB; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Saal HM; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.
Source: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2020 Sep; Vol. 184 (3), pp. 644-655. Date of Electronic Publication: 2020 Sep 05.
Publication Type: Case Reports; Journal Article; Review
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations.
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  Data: <searchLink fieldCode="AU" term="%22Miraldi+Utz+V%22">Miraldi Utz V</searchLink>; Abrahamson Pediatric Eye Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Ophthalmology, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Brightman+DS%22">Brightman DS</searchLink>; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Sandoval+MA%22">Sandoval MA</searchLink>; Abrahamson Pediatric Eye Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Hufnagel+RB%22">Hufnagel RB</searchLink>; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Saal+HM%22">Saal HM</searchLink>; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.
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  Data: <searchLink fieldCode="JN" term="%22101235745%22">American journal of medical genetics. Part C, Seminars in medical genetics</searchLink> [Am J Med Genet C Semin Med Genet] 2020 Sep; Vol. 184 (3), pp. 644-655. <i>Date of Electronic Publication: </i>2020 Sep 05.
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        Value: 10.1002/ajmg.c.31839
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        Text: English
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      – TitleFull: Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations.
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            NameFull: Miraldi Utz V
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              M: 09
              Text: 2020 Sep
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            – TitleFull: American journal of medical genetics. Part C, Seminars in medical genetics
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