Russell-Silver syndrome
Definition:
References:
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[1]. Agostina De Crescenzo, et al. A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype. J Hum Genet. 2015 Jun;60(6):287-93. [Content Brief]
[2]. Raffaella Nativio, et al. Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome. Hum Mol Genet. 2011 Apr 1;20(7):1363-74. [Content Brief]
[3]. Thomas Eggermann, et al. Russell-Silver syndrome. Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):355-64. [Content Brief]
[4]. Thomas Eggermann, et al. Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures. Horm Res. 2009 Apr;71 Suppl 2:30-5. [Content Brief]
[5]. Thomas Eggermann, et al. Silver-Russell syndrome: genetic basis and molecular genetic testing. Orphanet J Rare Dis. 2010 Jun 23;5:19. [Content Brief]
[6]. Yerai Vado, et al. Novel Variant in PLAG1 in a Familial Case with Silver-Russell Syndrome Suspicion. Genes (Basel). 2020 Dec 5;11(12):1461. [Content Brief]
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