WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2)
Open Access
- 1 October 1995
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 32 (10) , 823-824
- https://doi.org/10.1136/jmg.32.10.823
Abstract
The WAGR syndrome (Wilms' tumour, aniridia, genital anomalies, and mental retardation) is well documented to be associated with a deletion of 11p13. We present a patient with a del(11)(p11.2p14.2) who as well as all the features of WAGR syndrome has multiple exostoses. We suggest that this could be a possible locus for hereditary multiple exostoses.Keywords
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