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A TSHZ3 Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome.

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Title: A TSHZ3 Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome.
Authors: Feichtinger RG; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Preisel M; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Steinbrücker K; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Brugger K; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Radda A; Department of Pediatrics, Hospital Villach, 9500 Villach, Austria., Wortmann SB; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Amalia Children's Hospital, Radboudumc, 6525 GA Nijmegen, The Netherlands., Mayr JA; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.
Source: Genes [Genes (Basel)] 2022 Nov 23; Vol. 13 (12). Date of Electronic Publication: 2022 Nov 23.
Publication Type: Case Reports; Research Support, Non-U.S. Gov't; Journal Article
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A TSHZ3 Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Feichtinger+RG%22">Feichtinger RG</searchLink>; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.<br /><searchLink fieldCode="AU" term="%22Preisel+M%22">Preisel M</searchLink>; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.<br /><searchLink fieldCode="AU" term="%22Steinbrücker+K%22">Steinbrücker K</searchLink>; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.<br /><searchLink fieldCode="AU" term="%22Brugger+K%22">Brugger K</searchLink>; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.<br /><searchLink fieldCode="AU" term="%22Radda+A%22">Radda A</searchLink>; Department of Pediatrics, Hospital Villach, 9500 Villach, Austria.<br /><searchLink fieldCode="AU" term="%22Wortmann+SB%22">Wortmann SB</searchLink>; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Amalia Children's Hospital, Radboudumc, 6525 GA Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Mayr+JA%22">Mayr JA</searchLink>; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.
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  Data: <searchLink fieldCode="JN" term="%22101551097%22">Genes</searchLink> [Genes (Basel)] 2022 Nov 23; Vol. 13 (12). <i>Date of Electronic Publication: </i>2022 Nov 23.
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  Data: Case Reports; Research Support, Non-U.S. Gov't; Journal Article
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22MDPI%22">MDPI </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101551097 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2073-4425 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220734425%22">20734425 </searchLink><i>NLM ISO Abbreviation: </i>Genes (Basel) <i>Subsets: </i>MEDLINE
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        Value: 10.3390/genes13122191
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        Text: English
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      – TitleFull: A TSHZ3 Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome.
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              Text: 2022 Nov 23
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