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Phenocopies of 22q11.2DS: revealing genetic diversity in clinically suspected 22q11.2 deletion syndrome.

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Title: Phenocopies of 22q11.2DS: revealing genetic diversity in clinically suspected 22q11.2 deletion syndrome.
Authors: Szumutku F; Tűzoltó Street Department, Pediatric Center, Semmelweis University, Budapest, Hungary. szumutku.fanni@semmelweis.hu., Lengyel A; Tűzoltó Street Department, Pediatric Center, Semmelweis University, Budapest, Hungary., Pinti É; Tűzoltó Street Department, Pediatric Center, Semmelweis University, Budapest, Hungary., Kun I; Tűzoltó Street Department, Pediatric Center, Semmelweis University, Budapest, Hungary., Németh K; Tűzoltó Street Department, Pediatric Center, Semmelweis University, Budapest, Hungary., Abonyi T; Tűzoltó Street Department, Pediatric Center, Semmelweis University, Budapest, Hungary., Gál F; Tűzoltó Street Department, Pediatric Center, Semmelweis University, Budapest, Hungary., Ryu SW; 3billion Inc, Seoul, South Korea., Song Y; 3billion Inc, Seoul, South Korea., Ujfalusi A; Department of Medical Genetics, Faculty of Medicine, University of Debrecen, Debrecen, Hungary., Kádár K; Heart and Vascular Center, Semmelweis University, Budapest, Hungary., Jávorszky E; MTA Center of Excellence, Pediatric Center, Semmelweis University, Budapest, Hungary., Tory K; MTA Center of Excellence, Pediatric Center, Semmelweis University, Budapest, Hungary., Kis É; Gottsegen National Cardiovascular Center, Budapest, Hungary., Goda V; Central Hospital of Southern Pest National Institute of Hematology and Infectious Diseases, Budapest, Hungary., Kriván G; Central Hospital of Southern Pest National Institute of Hematology and Infectious Diseases, Budapest, Hungary., Kovács ÁF; Heart and Vascular Center, Semmelweis University, Budapest, Hungary.; Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary., Haltrich I; Tűzoltó Street Department, Pediatric Center, Semmelweis University, Budapest, Hungary.
Source: Molecular and cellular pediatrics [Mol Cell Pediatr] 2026 Apr 30; Vol. 13 (1). Date of Electronic Publication: 2026 Apr 30.
Publication Type: Journal Article
Journal Info: Publisher: Springer Country of Publication: Germany NLM ID: 101660689 Publication Model: Electronic Cited Medium: Print ISSN: 2194-7791 (Print) Linking ISSN: 21947791 NLM ISO Abbreviation: Mol Cell Pediatr Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Phenocopies of 22q11.2DS: revealing genetic diversity in clinically suspected 22q11.2 deletion syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Szumutku+F%22">Szumutku F</searchLink>; Tűzoltó Street Department, Pediatric Center, Semmelweis University, Budapest, Hungary. szumutku.fanni@semmelweis.hu.<br /><searchLink fieldCode="AU" term="%22Lengyel+A%22">Lengyel A</searchLink>; Tűzoltó Street Department, Pediatric Center, Semmelweis University, Budapest, Hungary.<br /><searchLink fieldCode="AU" term="%22Pinti+É%22">Pinti É</searchLink>; Tűzoltó Street Department, Pediatric Center, Semmelweis University, Budapest, Hungary.<br /><searchLink fieldCode="AU" term="%22Kun+I%22">Kun I</searchLink>; Tűzoltó Street Department, Pediatric Center, Semmelweis University, Budapest, Hungary.<br /><searchLink fieldCode="AU" term="%22Németh+K%22">Németh K</searchLink>; Tűzoltó Street Department, Pediatric Center, Semmelweis University, Budapest, Hungary.<br /><searchLink fieldCode="AU" term="%22Abonyi+T%22">Abonyi T</searchLink>; Tűzoltó Street Department, Pediatric Center, Semmelweis University, Budapest, Hungary.<br /><searchLink fieldCode="AU" term="%22Gál+F%22">Gál F</searchLink>; Tűzoltó Street Department, Pediatric Center, Semmelweis University, Budapest, Hungary.<br /><searchLink fieldCode="AU" term="%22Ryu+SW%22">Ryu SW</searchLink>; 3billion Inc, Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Song+Y%22">Song Y</searchLink>; 3billion Inc, Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Ujfalusi+A%22">Ujfalusi A</searchLink>; Department of Medical Genetics, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.<br /><searchLink fieldCode="AU" term="%22Kádár+K%22">Kádár K</searchLink>; Heart and Vascular Center, Semmelweis University, Budapest, Hungary.<br /><searchLink fieldCode="AU" term="%22Jávorszky+E%22">Jávorszky E</searchLink>; MTA Center of Excellence, Pediatric Center, Semmelweis University, Budapest, Hungary.<br /><searchLink fieldCode="AU" term="%22Tory+K%22">Tory K</searchLink>; MTA Center of Excellence, Pediatric Center, Semmelweis University, Budapest, Hungary.<br /><searchLink fieldCode="AU" term="%22Kis+É%22">Kis É</searchLink>; Gottsegen National Cardiovascular Center, Budapest, Hungary.<br /><searchLink fieldCode="AU" term="%22Goda+V%22">Goda V</searchLink>; Central Hospital of Southern Pest National Institute of Hematology and Infectious Diseases, Budapest, Hungary.<br /><searchLink fieldCode="AU" term="%22Kriván+G%22">Kriván G</searchLink>; Central Hospital of Southern Pest National Institute of Hematology and Infectious Diseases, Budapest, Hungary.<br /><searchLink fieldCode="AU" term="%22Kovács+ÁF%22">Kovács ÁF</searchLink>; Heart and Vascular Center, Semmelweis University, Budapest, Hungary.; Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary.<br /><searchLink fieldCode="AU" term="%22Haltrich+I%22">Haltrich I</searchLink>; Tűzoltó Street Department, Pediatric Center, Semmelweis University, Budapest, Hungary.
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  Data: <searchLink fieldCode="JN" term="%22101660689%22">Molecular and cellular pediatrics</searchLink> [Mol Cell Pediatr] 2026 Apr 30; Vol. 13 (1). <i>Date of Electronic Publication: </i>2026 Apr 30.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer%22">Springer </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>101660689 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Print <i>ISSN: </i>2194-7791 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2221947791%22">21947791 </searchLink><i>NLM ISO Abbreviation: </i>Mol Cell Pediatr <i>Subsets: </i>PubMed not MEDLINE
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