The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.
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| Title: | The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome. |
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| Authors: | Farach LS; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center, Houston at Houston, Texas., Little ME; Division of Medical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware., Duker AL; Division of Medical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware., Logan CV; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Jackson A; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Hecht JT; Department of Pediatrics, Pediatric Research Center, McGovern Medical School and School of Dentistry, University of Texas Health Science Center at Houston, Houston, Texas., Bober M; Division of Medical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2018 Feb; Vol. 176 (2), pp. 465-469. Date of Electronic Publication: 2017 Dec 19. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural |
| 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.38581 |
