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A splicing mutation of the HMGA2 gene is associated with Silver–Russell syndrome phenotype

Agostina De Crescenzo, Valentina Citro, Andrea Freschi, Angela Sparago, Orazio Palumbo, Maria Vittoria Cubellis, Massimo Carella, Pia Castelluccio, Maria Luigia Cavaliere, Flavia Cerrato,

Journal of Human Genetics · 2015 · 41 citations · 15 references

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References

15

Mutation responsible for the mouse pygmy phenotype in the developmentally regulated factor HMGI-C

Xianjin Zhou, Kathleen F. Benson, Hena R. Ashar et al. · Nature · 1995 · 624 citations

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A common variant of HMGA2 is associated with adult and childhood height in the general population

Michael N. Weedon, Guillaume Lettre, Rachel M. Freathy et al. · Nature Genetics · 2007 · 412 citations · Full text

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11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlations

Irène Netchine, Sylvie Rossignol, Marie‐Noëlle Dufourg et al. · The Journal of Clinical Endocrinology & Metabolism · 2007 · 312 citations · Full text

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Epigenotype–phenotype correlations in Silver–Russell syndrome

Emma Wakeling, S. A. Amero, Mariëlle Alders et al. · Journal of Medical Genetics · 2010 · 220 citations · Full text

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Broad Clinical Spectrum in Silver-Russell Syndrome and Consequences for Genetic Testing in Growth Retardation

Thomas Eggermann, Daniela Gonzalez, Sabrina Spengler et al. · PEDIATRICS · 2009 · 144 citations

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