Biallelic variants in DNA2 cause microcephalic primordial dwarfism.
Journal Information
Full Title: Hum Mutat
Abbreviation: Hum Mutat
Country: Unknown
Publisher: Unknown
Language: N/A
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Subject Category: Genetics, Medical
Available in Europe PMC: Yes
Available in PMC: Yes
PDF Available: No
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"CONFLICT OF INTERESTS The authors declare that there is no conflict of interests."
"The authors are grateful to the families for their participation in the research presented here. Authors are indebted to M. Hurles (Wellcome Trust Sanger Institute, UK) for collaboration on WES for P1 and P3, funded by the Wellcome Trust (WT098051). Authors thank S. Brown, A. Gallagher, and S. O'Neil for technical support, and T. Cooper for reagents. This study was supported by the Potentials Foundation (to C. W.). L. S. B. was supported by Medical Research Scotland. J. A. M. is supported by a Medical Research Council Career Development Award (MR/M02122X/1). The lab of A. P. J. is supported by the Medical Research Council, UK (MRC, U127580972) and the European Research Council (ERC), through ERC Starter Grant 281847; and now by the European Union's Horizon 2020 research and innovation programme ERC Advanced Grant (Grant agreement No: 788093)."
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Last Updated: Aug 05, 2025