Delineation of Facial Dysmorphology in Males With Creatine Transporter Defect.

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Title: Delineation of Facial Dysmorphology in Males With Creatine Transporter Defect.
Authors: Perreault J; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, USA., Porter FD; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, USA., Nowaczyk MJM; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Canada.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Jul; Vol. 200 (7), pp. 1740-1741. Date of Electronic Publication: 2026 Feb 24.
Publication Type: 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; In Process
Database: MEDLINE Ultimate
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  Data: Delineation of Facial Dysmorphology in Males With Creatine Transporter Defect.
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  Data: <searchLink fieldCode="AU" term="%22Perreault+J%22">Perreault J</searchLink>; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, USA.<br /><searchLink fieldCode="AU" term="%22Porter+FD%22">Porter FD</searchLink>; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, USA.<br /><searchLink fieldCode="AU" term="%22Nowaczyk+MJM%22">Nowaczyk MJM</searchLink>; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, 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] 2026 Jul; Vol. 200 (7), pp. 1740-1741. <i>Date of Electronic Publication: </i>2026 Feb 24.
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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; In Process
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      – Type: doi
        Value: 10.1002/ajmg.a.70093
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      – Code: eng
        Text: English
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        StartPage: 1740
    Titles:
      – TitleFull: Delineation of Facial Dysmorphology in Males With Creatine Transporter Defect.
        Type: main
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            NameFull: Perreault J
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            NameFull: Porter FD
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            NameFull: Nowaczyk MJM
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            – D: 01
              M: 07
              Text: 2026 Jul
              Type: published
              Y: 2026
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            – Type: issn-electronic
              Value: 1552-4833
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              Value: 200
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              Value: 7
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            – TitleFull: American journal of medical genetics. Part A
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