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. |
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| 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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| ISSN: | 2073-4425 |
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| DOI: | 10.3390/genes13122191 |
