Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome.
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| Title: | Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome. |
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| Authors: | Farris J; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA., Khanna C; Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA., Smadbeck JB; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA., Johnson SH; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA., Bothun E; Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA., Kaplan T; Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA., Hoffman F; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Polonis K; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, USA., Oliver G; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA., Reis LM; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, Wisconsin, USA., Semina EV; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, Wisconsin, USA.; Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA., Rust L; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA., Hoppman NL; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Vasmatzis G; Department of Molecular Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA., Marcou CA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Schimmenti LA; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2024 May; Vol. 194 (5), pp. e63542. Date of Electronic Publication: 2024 Jan 17. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.63542 |
