A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome.

@article{Hoefele2012ANI,
  title={A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome.},
  author={Julia Hoefele and Meike Gabert and Uwe Heinrich and Kerstin Benz and Oliver Rompel and Imma Rost and Hanns-Georg Klein and Erdmute Kunstmann},
  journal={European journal of medical genetics},
  year={2012},
  volume={55 3},
  pages={
          211-5
        }
}
Renal coloboma syndrome (RCS) is considered to be a rare autosomal dominant inherited disorder characterized by renal malformations and optic disc coloboma. Ocular anomalies range from asymptomatic abnormalities in retinal blood vessel patterning to large excavations of the optic nerve associated with reduced visual acuity. Commonly observed manifestations of the kidney are renal hypoplasia and vesicoureteric reflux leading to end-stage renal disease. Mutations in the PAX2 gene on chromosome 10… CONTINUE READING
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