A role for EHMT2 in a novel autosomal recessive neurodevelopmental syndrome? A case report.
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| Title: | A role for EHMT2 in a novel autosomal recessive neurodevelopmental syndrome? A case report. |
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| Authors: | Rots D; Department of Clinical Genetics, Erasmus MC, Rotterdam, Netherlands., de Oliveira BC; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem Cell Research Center, University of Sao Paulo (USP), Sao Paulo, Brazil., Carvalho LML; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem Cell Research Center, University of Sao Paulo (USP), Sao Paulo, Brazil.; Cajal Institute, Spanish National Research Council (CSIC), Madrid, Spain., Zhao X; Baylor Genetics, Houston, TX, United States.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States., Sadikovic B; Verspeeten Clinical Genome Center, London Health Sciences Center, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Sim T; Baylor Genetics, Houston, TX, United States.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States., Rigobello R; Baylor Genetics, Houston, TX, United States., Tedder M; Greenwood Genetic Center, Greenwood, SC, United States., Donoghue S; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States., Maripuri DP; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, United States., Hnizda A; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine and General University Hospital, Charles University in Prague, Prague, Czechia., Barr E; Baylor Genetics, Houston, TX, United States., Fletcher R; Greenwood Genetic Center, Greenwood, SC, United States., Noskova L; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine and General University Hospital, Charles University in Prague, Prague, Czechia., Li D; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States., Kleefstra T; Department of Clinical Genetics, Erasmus MC, Rotterdam, Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, Netherlands., Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States., Barrero MJ; Institute of Rare Diseases Research (IIER), Spanish National Institute of Health Carlos III (ISCIII), Madrid, Spain.; Undiagnosed Diseases Program (SpainUDP), Madrid, Spain., Krepischi ACV; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem Cell Research Center, University of Sao Paulo (USP), Sao Paulo, Brazil., Strong A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States. |
| Source: | Frontiers in genetics [Front Genet] 2026 Jun 26; Vol. 17, pp. 1824138. Date of Electronic Publication: 2026 Jun 26 (Print Publication: 2026). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1664-8021 |
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| DOI: | 10.3389/fgene.2026.1824138 |
