Rothmund-Thomson Syndrome Revisited: Expanding the Genotypic Spectrum, Deciphering RECQL4-Related Pathomechanisms, And Redefining Long-Term Surveillance Strategies for An Underrecognized Genodermatosis
This comprehensive review synthesizes current knowledge regarding Rothmund-Thomson syndrome to provide clinicians with a practical framework for early recognition, diagnostic confirmation, and multidisciplinary management of this often-elusive syndrome, while identifying critical knowledge gaps that warrant future inve...