Novel insights into Silver-Russell syndrome

ey0015.4-7 | Novel insights into Silver-Russell syndrome | ESPEYB15

4.7 Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children

M Muurinen , K Hannula-Jouppi , LE Reinius , C Söderhäll , SK Merid , A Bergström , E Melén , G Perghagen , M Lipsanen-Nyman , D Greco , J Kere

To read the full abstract: Sci Rep 2017; 16;7:15693SRS is a rare congenital disorder, characterized by intrauterine growth restriction, postnatal growth impairment and a wide range of signs and symptoms such as dysmorphic features, severe feeding difficulties, body asymmetry, and neurodevelopmental delay. The molecular etiology is heterogeneous. Loss of methylation on chromosome 11p1...

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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

Yearbook of Paediatric Endocrinology 2018

4 Growth and Growth Factors

4.7 Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children

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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