Ontology highlight
ABSTRACT:
INSTRUMENT(S): other
ORGANISM(S): Homo sapiens
DISEASE(S): normal
SUBMITTER: Bruce Sara
PROVIDER: E-MTAB-56 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Bruce Sara S Hannula-Jouppi Katariina K Puoskari Mari M Fransson Ingegerd I Simola Kalle O J KO Lipsanen-Nyman Marita M Kere Juha J
Journal of medical genetics 20090914 12
<h4>Background</h4>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.<h4>Methods</h4>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 ...[more]