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. |
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| 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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| ISSN: | 2194-7791 |
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| DOI: | 10.1186/s40348-026-00236-1 |
