ArticleJournal of Indian Association of Pediatric Surgeons
Convergent Genetic Architecture in Concurrent Anorectal Malformations and Hypospadias: The
Article in Journal of Indian Association of Pediatric Surgeons. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- Epigenetic Signatures in Hypospadias: Systematic Review.Journal of Indian Association of Pediatric SurgeonsArticle
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Anorectal malformations (ARM) and hypospadias are common congenital anomalies that occasionally co-occur, suggesting shared developmental pathways. Despite their clinical significance, the genetic etiology of combined ARM-hypospadias remains poorly understood. Objective: The objective of this study was to identify genetic variants underlying concurrent ARM and hypospadias using whole exome sequencing and elucidate the molecular mechanisms driving their co-occurrence. Materials and Methods: Six boys with concurrent ARM and hypospadias underwent whole exome sequencing. Variants were filtered using stringent bioinformatic criteria (Minor Allele Frequency (MAF) <0.05, Combined Annotation Dependent Depletion (CADD) >20) and analyzed for pathogenicity using multiple prediction tools. Gene enrichment analysis, protein-protein interaction networks, and tissue expression profiles were evaluated. All patients had normal 46, XY karyotypes. Results: Five patients harbored a recurrent heterozygous missense variant in Conclusion: This study suggests a potential
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