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

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, bilatera...

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Detalles Bibliográficos
Autores principales: Almind, Gitte J, Brøndum-Nielsen, Karen, Bangsgaard, Regitze, Baekgaard, Peter, Grønskov, Karen
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2649934/
https://www.ncbi.nlm.nih.gov/pubmed/19222835
http://dx.doi.org/10.1186/1755-8166-2-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2649934/
https://www.ncbi.nlm.nih.gov/pubmed/19222835
http://dx.doi.org/10.1186/1755-8166-2-6

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