research Disruption of the Temporally Regulated Cloaca Endodermal β-Catenin Signaling Causes Anorectal Malformations
Disrupting β-catenin signaling in certain cells causes anorectal malformations.
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research Case Report: Disorder of Sex Development 46, XY with Proximal Hypospadias in a 10-Year-Old Twin Boy
A 10-year-old boy with abnormal genital development had surgery and tests to find the cause and plan treatment.
research Regulation of Masculinization: Androgen Signaling for External Genitalia Development
Male genital development is driven by androgen signaling and understanding it could help address congenital anomalies.
research Pediatric Dermatoses Pattern at a Brazilian Reference Center
Inflammatory skin conditions are the most common in Brazilian children, with atopic dermatitis being the top issue.
research MendelVar: Gene Prioritization at GWAS Loci Using Phenotypic Enrichment of Mendelian Disease Genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
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