Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature.
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| Title: | Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature. |
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| Authors: | Bhola PT; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada., Mishra R; Department of Cellular and Molecular Medicine, Ottawa Institute of Systems Biology, University of Ottawa, Ottawa, Canada., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Hamilton LE; Department of Pathology and Laboratory Medicine, Children's Hospital of Eastern Ontario and University of Ottawa, Ottawa, Canada., Graham GE; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada., Punetha J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Boycott KM; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada., D'Amours D; Department of Cellular and Molecular Medicine, Ottawa Institute of Systems Biology, University of Ottawa, Ottawa, Canada., Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Newborn Screening Ontario (NSO), Ottawa, Canada. |
| Corporate Authors: | Care4Rare Canada Consortium; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63455. Date of Electronic Publication: 2023 Nov 03. |
| Publication Type: | Review; Case Reports; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural; 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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