A novel pathogenic variant in POLR1D (c.220dup, p.His74ProfsTer8) causes Treacher Collins syndrome type 2 in a Chinese patient: a case report
BMC Pediatr. 2025 Dec 27. doi: 10.1186/s12887-025-06469-9. Online ahead of print. ABSTRACT INTRODUCTION: Treacher Collins syndrome type 2 (TCS2; OMIM# 613717) is a rare genetic …