Clinical characteristics and outcomes of children with WAGR syndrome and Wilms tumor and/or nephroblastomatosis: The 30‐year SIOP‐RTSG experience
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DOI: 10.1002/cncr.33304
Abstract: WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, and range of developmental delays) is a rare contiguous gene deletion syndrome with a 45% to 60% risk of developing Wilms tumor (WT). Currently, surveillance and treatment recommendations… read more here.
Keywords: syndrome wilms; characteristics outcomes; clinical characteristics; wilms tumor ... See more keywords
Sustained endocrine profiles of a girl with WAGR syndrome
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DOI: 10.1186/s12881-017-0477-5
Abstract: BackgroundWilms tumor, aniridia, genitourinary anomalies and mental retardation (WAGR) syndrome is a rare genetic disorder caused by heterozygous deletions of WT1 and PAX6 at chromosome 11p13. Deletion of BDNF is known eto be associated with… read more here.
Keywords: girl wagr; wagr syndrome; profiles girl; sustained endocrine ... See more keywords
The WAGR syndrome gene PRRG4 is a functional homologue of the commissureless axon guidance gene
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DOI: 10.1371/journal.pgen.1006865
Abstract: WAGR syndrome is characterized by Wilm’s tumor, aniridia, genitourinary abnormalities and intellectual disabilities. WAGR is caused by a chromosomal deletion that includes the PAX6, WT1 and PRRG4 genes. PRRG4 is proposed to contribute to the… read more here.
Keywords: gene; axon guidance; wagr syndrome; prrg4 functional ... See more keywords
Unusual Presentation in WAGR Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Diseases
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DOI: 10.3390/genes13081431
Abstract: The deletion of chromosome 11p13 involving the WT1 and PAX6 genes has been shown to cause WAGR syndrome (OMIM #194072), a rare genetic disorder that features Wilms’ tumor, aniridia, genitourinary anomalies, as well as mental… read more here.
Keywords: wagr syndrome; unusual presentation; spectrum; phenotypic ... See more keywords
[WAGR syndrome by heterozygous deletion of the WT1 gene. Pediatric case report].
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DOI: 10.5546/aap.2019.e505
Abstract: WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies and mental retardation) is an uncommon genetic disorder due to the deletion of the 11p13 region that contains the WT1 and PAX6 genes. It involves a distinctive combination… read more here.
Keywords: heterozygous deletion; deletion; report; wilms tumor ... See more keywords