11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report

Gitte J Almind,Karen Brøndum-Nielsen,Regitze Bangsgaard,Peter Baekgaard,Karen Grønskov

11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report

2009

Gitte J Almind
Karen Brøndum-Nielsen
Regitze Bangsgaard
Peter Baekgaard
Karen Grønskov

WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.

Keywords:

Dermatology
Chromosome regions
Bioinformatics
Genitourinary system
Exostosis
WAGR syndrome
Aniridia
PAX6
Sex organ
Biology
Cytogenetics
Pathology
Multiplex ligation-dependent probe amplification
Human genetics

Correction
Source
Cite
Save
Machine Reading By IdeaReader

References

Citations