GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.

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Title: GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.
Authors: Škorić-Milosavljević D; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands., Tjong FVY; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands., Barc J; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands., Backx APCM; Department of Pediatric Cardiology, Amsterdam UMC, Emma Children's Hospital, Amsterdam, The Netherlands., Clur SB; Department of Pediatric Cardiology, Amsterdam UMC, Emma Children's Hospital, Amsterdam, The Netherlands., van Spaendonck-Zwarts K; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Oostra RJ; Department of Medical Biology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Lahrouchi N; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands., Beekman L; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands., Bökenkamp R; Department of Pediatric Cardiology, Leiden University Medical Center, Leiden, The Netherlands., Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Mulder BJ; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands., Lodder EM; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands., Bezzina CR; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands., Postma AV; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Department of Medical Biology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Sep; Vol. 179 (9), pp. 1836-1845. Date of Electronic Publication: 2019 Jul 12.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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
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  Data: GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.
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  Data: <searchLink fieldCode="AU" term="%22Škorić-Milosavljević+D%22">Škorić-Milosavljević D</searchLink>; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Tjong+FVY%22">Tjong FVY</searchLink>; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Barc+J%22">Barc J</searchLink>; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Backx+APCM%22">Backx APCM</searchLink>; Department of Pediatric Cardiology, Amsterdam UMC, Emma Children's Hospital, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Clur+SB%22">Clur SB</searchLink>; Department of Pediatric Cardiology, Amsterdam UMC, Emma Children's Hospital, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Spaendonck-Zwarts+K%22">van Spaendonck-Zwarts K</searchLink>; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Oostra+RJ%22">Oostra RJ</searchLink>; Department of Medical Biology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Lahrouchi+N%22">Lahrouchi N</searchLink>; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Beekman+L%22">Beekman L</searchLink>; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Bökenkamp+R%22">Bökenkamp R</searchLink>; Department of Pediatric Cardiology, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Barge-Schaapveld+DQCM%22">Barge-Schaapveld DQCM</searchLink>; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Mulder+BJ%22">Mulder BJ</searchLink>; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Lodder+EM%22">Lodder EM</searchLink>; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Bezzina+CR%22">Bezzina CR</searchLink>; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Postma+AV%22">Postma AV</searchLink>; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Department of Medical Biology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
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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
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        Value: 10.1002/ajmg.a.61294
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        Text: English
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              Text: 2019 Sep
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