Total: 1 |
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PMID (PMCID) | ||
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19222835 (2649934) |
OTHER | |
11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report. | ||
Almind GJ, Brondum-Nielsen K, Bangsgaard R, Baekgaard P, Gronskov K. Mol Cytogenet. 2009;2:6. |
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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.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face. |