A novel pathogenic variant in POLR1D (c.220dup, p.His74ProfsTer8) causes Treacher Collins syndrome type 2 in a Chinese patient: a case report

This study expands the mutational spectrum of POLR1D-related TCS2 and underscores the vital role of multidisciplinary airway intervention in severe presentations. As an exceptionally rare disorder, this case provides crucial genotype-phenotype correlations that advance both clinical management strategies and molecular understanding of TCS2 pathogenesis.