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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.
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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  Data: Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature.
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  Data: <searchLink fieldCode="AU" term="%22Bhola+PT%22">Bhola PT</searchLink>; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.<br /><searchLink fieldCode="AU" term="%22Mishra+R%22">Mishra R</searchLink>; Department of Cellular and Molecular Medicine, Ottawa Institute of Systems Biology, University of Ottawa, Ottawa, Canada.<br /><searchLink fieldCode="AU" term="%22Posey+JE%22">Posey JE</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Hamilton+LE%22">Hamilton LE</searchLink>; Department of Pathology and Laboratory Medicine, Children's Hospital of Eastern Ontario and University of Ottawa, Ottawa, Canada.<br /><searchLink fieldCode="AU" term="%22Graham+GE%22">Graham GE</searchLink>; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.<br /><searchLink fieldCode="AU" term="%22Punetha+J%22">Punetha J</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Lupski+JR%22">Lupski JR</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Boycott+KM%22">Boycott KM</searchLink>; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.<br /><searchLink fieldCode="AU" term="%22D'Amours+D%22">D'Amours D</searchLink>; Department of Cellular and Molecular Medicine, Ottawa Institute of Systems Biology, University of Ottawa, Ottawa, Canada.<br /><searchLink fieldCode="AU" term="%22Kernohan+KD%22">Kernohan KD</searchLink>; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Newborn Screening Ontario (NSO), Ottawa, Canada.
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  Data: <searchLink fieldCode="CA" term="%22Care4Rare+Canada+Consortium%22">Care4Rare Canada Consortium</searchLink>; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63455. <i>Date of Electronic Publication: </i>2023 Nov 03.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=37921537
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              Text: 2024 Mar
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