Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database

Tumer, Z.; Lopez-Hernandez, J.A.; Netchine, I.; Elbracht, M.; Gronskov, K.; Gede, L.B.; ... ; Eggermann, T. (2018)

Article / Letter to editor

• 11p15
• growth retardation
• LOVD database
• methylation
• NH-CSS
• sequence variant
• Silver-Russell syndrome
• SRS
• structural variant

• All authors: Tumer, Z.; Lopez-Hernandez, J.A.; Netchine, I.; Elbracht, M.; Gronskov, K.; Gede, L.B.; Sachwitz, J.; Dunnen, J.T. den; Eggermann, T.
• Date: 2018-03-31
• Journal: Human Mutation
• Volume: 39
• Issue: 3
• Pages: 345 - 364
• DOI: doi:10.1002/humu.23382