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ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.
Awamleh, Zain; Choufani, Sanaa; Cytrynbaum, Cheryl; Alkuraya, Fowzan S; Scherer, Stephen; Fernandes, Sofia; Rosas, Catarina; Louro, Pedro; Dias, Patricia; Neves, Mariana Tomásio; Sousa, Sérgio B; Weksberg, Rosanna.
Afiliación
  • Awamleh Z; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
  • Choufani S; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
  • Cytrynbaum C; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
  • Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Scherer S; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
  • Fernandes S; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.
  • Rosas C; Institute of Medical Sciences, University of Toronto, Toronto, ON M5S 1A8, Canada.
  • Louro P; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, EPE, Coimbra, Portugal.
  • Dias P; Familial Risk Clinic, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal.
  • Neves MT; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, EPE, Coimbra, Portugal.
  • Sousa SB; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, EPE, Coimbra, Portugal.
  • Weksberg R; Serviço de Genética Médica, Departamento de Pediatria, Centro Hospitalar Lisboa Norte, Hospital de Santa Maria, EPE, Lisbon, Portugal.
Hum Mol Genet ; 32(9): 1429-1438, 2023 04 20.
Article en En | MEDLINE | ID: mdl-36440975
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Represoras / Anomalías Múltiples Tipo de estudio: Prognostic_studies Límite: Child / Female / Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Canadá
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Represoras / Anomalías Múltiples Tipo de estudio: Prognostic_studies Límite: Child / Female / Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Canadá