Identification of the DNA methylation signature of Mowat-Wilson syndrome

Mowat-Wilson syndrome (MOWS) is a rare congenital disease caused by haploinsufficiency of ZEB2, encoding a transcription factor required for neurodevelopment. MOWS is characterized by intellectual disability, epilepsy, typical facial phenotype and other anomalies, such as short stature, Hirschsprung...

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Veröffentlicht in:	European journal of human genetics : EJHG 2024-02, Vol.32 (6), p.619-629
Hauptverfasser:	Caraffi, Stefano Giuseppe, van der Laan, Liselot, Rooney, Kathleen, Trajkova, Slavica, Zuntini, Roberta, Relator, Raissa, Haghshenas, Sadegheh, Levy, Michael A, Baldo, Chiara, Mandrile, Giorgia, Lauzon, Carolyn, Cordelli, Duccio Maria, Ivanovski, Ivan, Fetta, Anna, Sukarova, Elena, Brusco, Alfredo, Pavinato, Lisa, Pullano, Verdiana, Zollino, Marcella, McConkey, Haley, Tartaglia, Marco, Ferrero, Giovanni Battista, Sadikovic, Bekim, Garavelli, Livia
Format:	Artikel
Sprache:	eng
Schlagworte:	Biomarkers CpG islands Diagnosis DNA methylation DNA probes Epilepsy Genetic testing Genetic variability Haploinsufficiency Heart diseases Hirschsprung's disease Intellectual disabilities Multidimensional scaling Neonates Neurodevelopment Neurodevelopmental disorders Phenotypes
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