Condition: Rapadilino syndrome


rs1085307090 in RECQL4 gene and Rapadilino syndrome PMID 10678659 2000 Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.

PMID 12734318 2003 Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.