11p Microdeletion including <it>WT1 </it>but not <it>PAX6</it>, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report
<p>Abstract</p> <p>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.</p> <p>We present a patien...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2009-02-01
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| Series: | Molecular Cytogenetics |
| Online Access: | http://www.molecularcytogenetics.org/content/2/1/6 |