Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes

Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are two imprinting disorders associated with opposite molecular alterations in the 11p15.5 imprinting centres. Their clinical diagnosis is confirmed by molecular testing in 50-70% of patients. The authors from different reference ce...

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Veröffentlicht in:	Genetics Research 2019-03, Vol.101 (e3), p.e3-e3, Article e3
Hauptverfasser:	Mackay, Deborah J G, Bliek, Jet, Lombardi, Maria Paola, Russo, Silvia, Calzari, Luciano, Guzzetti, Sara, Izzi, Claudia, Selicorni, Angelo, Melis, Daniela, Temple, Karen, Maher, Eamonn, Brioude, Frédéric, Netchine, Irène, Eggermann, Thomas
Format:	Artikel
Sprache:	eng
Schlagworte:	Beckwith-Wiedemann Syndrome - diagnosis Beckwith-Wiedemann Syndrome - genetics Chromosomes, Human, Pair 11 - genetics DNA Methylation Genetic Predisposition to Disease - genetics Genetic Testing Genetics Human genetics Humans Life Sciences Phenotype Short Paper Silver-Russell Syndrome - diagnosis Silver-Russell Syndrome - genetics
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