Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome

@article{Gicquel2005EpimutationOT,
  title={Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome},
  author={Christine F Gicquel and Sylvie Rossignol and Sylvie Cabrol and Muriel Houang and Virginie Steunou and V{\'e}ronique Barbu and Fabienne Danton and Nathalie Thibaud and Martine Le Merrer and Lydie Burglen and A. Bertrand and Ir{\`e}ne Netchine and Yves le Bouc},
  journal={Nature Genetics},
  year={2005},
  volume={37},
  pages={1003-1007}
}
Silver-Russell syndrome (SRS, OMIM 180860) is a congenital disorder characterized by severe intrauterine and postnatal growth retardation, dysmorphic facial features and body asymmetry. SRS is genetically heterogenous with maternal uniparental disomy with respect to chromosome 7 occurring in ∼10% of affected individuals. Given the crucial role of the 11p15 imprinted region in the control of fetal growth, we hypothesized that dysregulation of genes at 11p15 might be involved in syndromic… CONTINUE READING
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