estd232 (obsolete - Blanco-Kelly et al. 2017)
- Organism:
- Human
- Study Type:
- Case-Set
- Submitter:
- Marta Corton
- Description:
- Chromosomal deletions at 11p13 deletions are a frequent cause of congenital Aniridia, a rare pan-ocular genetic disease, as well as the related WAGR syndrome. In this study, we have developed a customized targeted CGH array for the WAGR locus on chr11p13-14. We have performed a comprehensive CNV analysis of a large cohort of Spanish patients with aniridia, WAGR syndrome and other related ocular malformations. Here, we report new data from 8 subjects carrying structural variants with different sizes in this locus. See Variant Summary counts for estd232 in dbVar Variant Summary.
- Curatorial Comment:
- PLEASE NOTE: Replaced estd232 variant regions with variants in [nstd102|/dbvar/studies/nstd102]
- Publication(s):
- Blanco-Kelly et al. 2017
- Date Obsoleted:
- 2021-11-24
- Replacement Study:
- nstd102