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This study indicated that abnormal Bmp signaling in β-catenin gain-of-function mutants is associated with anorectal malformations, shedding light on potential mechanisms underlying these congenital conditions.

This case report describes a 10-year-old twin boy with proximal hypospadias and undescended testis, highlighting the diagnostic and treatment evaluations for associated sex development disorders.

This review discusses the molecular mechanisms of masculinization involving androgen signaling and their roles in male embryonic development and conditions like hypospadias and prostate cancer, and reports no clinical results.

This study found that inflammatory dermatoses, especially atopic dermatitis, were the most common pediatric skin conditions at a Brazilian reference center, highlighting different patterns compared to adult skin disorders.

This article discusses the MendelVar webserver, which integrates Mendelian disease data with GWAS findings to prioritize candidate genes for complex traits and reports no new experimental results.