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. |
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| 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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| ISSN: | 1552-4876 |
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| DOI: | 10.1002/ajmg.c.31839 |
