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Cytogenetics and molecular genetics

Characterization of an X-chromosome-linked telomere biology disorder in females with DKC1 mutation

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This study was funded by grants from Academy of Finland (#274474, #312492, and #284538), Helsinki University Hospital Comprehensive Cancer Center Research Funding, Cancer Society of Finland, Signe and Ane Gyllenberg Foundation, and Väre Foundation for Pediatric Cancer Research. We are grateful to patients who participated and thus made this study possible. We thank Lotta Honkala, Pihla Siipola, and Annukka Ruokolainen for excellent technical assistance, and FIMM Technology Center for Sanger sequencing services.

Author contributions

EAMH and SP conducted the molecular laboratory experiments and analyzed the results (except the telomere analysis). AN and SD conducted the telomere length analysis and analyzed the results. KH-J and HV are responsible for the dermatological and odontological and oral mucosal examination and interpretation, respectively. OK and UW-K designed the study, participated in the analyses, and finalized the manuscript. All authors participated in drafting the manuscript and have read and approved the final manuscript.

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Correspondence to Outi Kilpivaara or Ulla Wartiovaara-Kautto.

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The authors declare that they have no conflict of interest.

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