Bilateral aniridia and congenital ureteral valve: Role of genetic testing

BACKGROUND: Congenital aniridia involves total or partial hypoplasia of the iris and is due to a deficiency in PAX6 gene expression. WAGR syndrome is comprised of Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability. Numerous genitourinary pathologies may be associated wit...

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Detalles Bibliográficos
Autores principales: Shields, Lisa B. E., Peppas, Dennis S., Rosenberg, Eran
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196450/
https://www.ncbi.nlm.nih.gov/pubmed/32056389
http://dx.doi.org/10.1002/mgg3.1183

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196450/
https://www.ncbi.nlm.nih.gov/pubmed/32056389
http://dx.doi.org/10.1002/mgg3.1183

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