Bilateral aniridia and congenital ureteral valve: Role of genetic testing

Bilateral aniridia and congenital ureteral valve: Role of genetic testing

Abstract 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 associ...

Полное описание

Библиографические подробности
Главные авторы:	Lisa B. E. Shields, Dennis S. Peppas, Eran Rosenberg
Формат:	Статья
Язык:	English
Опубликовано:	Wiley 2020-04-01
Серии:	Molecular Genetics & Genomic Medicine
Предметы:	aniridia genetics pediatric urology ureteral valve wilms tumor
Online-ссылка:	https://doi.org/10.1002/mgg3.1183

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