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Author

Maria F. Gonzalez

1 paper indexed here

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Review Open access Jul 2026

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...

Ilse Nájera Basurto, J. G. Rodríguez, Josselin Rocha Martinez et al. · 0 citations

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