Biallelic variants in DNA2 cause microcephalic primordial dwarfism.

Publication Year: 2019

DOI:
10.1002/humu.23776

PMCID:
PMC6773220

PMID:
31045292

Journal Information

Full Title: Hum Mutat

Abbreviation: Hum Mutat

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics, Medical

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

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0.0% Transparent
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"CONFLICT OF INTERESTS The authors declare that there is no conflict of interests."

Evidence found in paper:

"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