Article
Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.
International journal of molecular sciences - 6 Apr 2018
Colombo Elisa A, Locatelli Andrea, Cubells Sánchez Laura, Romeo Sara, Elcioglu Nursel H, Maystadt Isabelle, Esteve Martínez Altea, Sironi Alessandra, Fontana Laura, Finelli Palma, Gervasini Cristina, Pecile Vanna, Larizza Lidia
Abstract excerpt
Biallelic mutations in RECQL4 gene, a caretaker of the genome, cause Rothmund-Thomson type-II syndrome (RTS-II) and confer increased cancer risk if they damage the helicase domain. We describe five families exemplifying clinical and allelic heterogeneity of RTS-II, and report the effect of pathogenic RECQL4 variants by in silico predictions and transcripts analyses. Complete phenotype of patients #39 and #42...
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