Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome
Keywords: انسولین مانند عامل رشد 1; RTS; Rothmund-Thomson syndrome; RECQL4; RecQ-like DNA helicase type 4; NGS; next-generation sequencing; RAPADILINO; RAdial hypoplasia, PAtellar hypoplasia and cleft or arched PAlate, DIarrhoea and DIslocated joints, LIttle size and LIimb malformation, sle