Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients.

@article{Bruce2010SubmicroscopicGA,
  title={Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients.},
  author={Sara H Bruce and Katariina Hannula-Jouppi and Mari Puoskari and Ingegerd Fransson and Kalle O.J. Simola and Marita Lipsanen-Nyman and Juha Kere},
  journal={Journal of medical genetics},
  year={2010},
  volume={47 12},
  pages={816-22}
}
BACKGROUND Silver-Russell syndrome (SRS, OMIM 180860) features fetal and postnatal growth restriction and variable dysmorphisms. Genetic and epigenetic aberrations on chromosomes 7 and 11 are commonly found in SRS. However, a large fraction of SRS cases remain with unknown genetic aetiology. METHODS 22 patients with a diagnosis of SRS (10 with H19 hypomethylation and 12 of unknown molecular aetiology) and their parents were studied with the Affymetrix 250K Sty microarray. Several analytical… CONTINUE READING
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