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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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ey0015.2-2 | International consensus on Beckwith-Wiedemann Syndrome | ESPEYB15

International consensus on Beckwith-Wiedemann Syndrome

F Brioude , JM Kalish , A Mussa , AC Foster , J Bliek , GB Ferrero , SE Boonen , T Cole , R Baker , M Bertoletti , G Cocchi , C Coze , M De Pellegrin , K Hussain , A Ibrahim , MD Kilby , M Krajewska-Walasek , CP Kratz , EJ Ladusans , P Lapunzina , Y Le Bouc , SM Maas , F Macdonald , K Õunap , L Peruzzi , S Rossignol , S Russo , C Shipster , A Skórka , Tatton-Brown , J Tenorio , C Tortora , K Grønskov , I Netchine , RC Hennekam , D Prawitt , Z Tümer , T Eggermann , DJG Mackay , A Riccio , ER Maher

To read the full abstract: Nat Rev Endocrinol. 2018 Apr;14(4):229-249Beckwith-Wiedemann syndrome (BWS) is a growth disorder characterized by neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, renal abnormalities (e.g., medullary dysplas...

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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

International consensus on Beckwith-Wiedemann Syndrome

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