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ey0015.4-8 | Novel insights into Silver-Russell syndrome | ESPEYB15

4.8 Targeted next generation sequencing approach in patients referred for Silver-Russell syndrome testing increases the mutation detection rate and provides decisive information for clinical management

R Meyer , L Soellner , M Begemann , S Dicks , G Fekete , N Rahner , K Zerres , M Elbracht , T Eggermann

To read the full abstract: J Pediatr 2017; 187:206-12SRS is a clinically heterogeneous imprinting disorder. Although the understanding of its genetic basis has gradually advanced, about 40% of patients still have an unknown molecular defect. In subjects with unknown etiology, diagnosis is primarily clinical, based upon the Netchine-Harbison scoring system (NH-CSS) [31]. How...

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ESPE Yearbook of Paediatric Endocrinology

4.8 Targeted next generation sequencing approach in patients referred for Silver-Russell syndrome testing increases the mutation detection rate and provides decisive information for clinical management

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