Conventional and molecular cytogenetic characterization of a Moroccan patient with WAGR syndrome
Faiza Chbel,
Hasna Hamdaoui,
Houssein Mossafa
et al.
Abstract:Background
WAGR syndrome is a rare genetic disorder characterized by a de novo deletion of 11p13 and is usually clinically associated with Wilms’ tumor, aniridia, genitourinary anomalies, and mental retardation (W-A-G-R). Although the genotypic defects in WAGR syndrome have been well established. The congenital aniridia is caused, in nearly 90% of cases by mutations in the gene PAX6. In the face of congenital aniridia, it is imperative to specify whether it falls within the scope of a WAGR synd… Show more
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