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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Genet Res (Camb)
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Cambridge University Press 2019
Pynciau:
Short Paper
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7044970/
https://ncbi.nlm.nih.gov/pubmed/30829192
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1017/S001667231900003X
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