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Likely foregut endoderm origin for a postzygotic mutation affecting the RNase IIIb domain of DICER1

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  • Contributors A-SC performed the DICER1 hotspot sequencing, digital droplet PCR analysis and wrote the manuscript. MA-R performed the DICER1 hotspot sequencing. LdK and BRP edited the manuscript and oversaw some of the laboratory work. WRD provided samples and collected clinical information. DB-DS provided expert pathology opinion. JRP reviewed the diagnostic images, collected clinical information and edited the manuscript. WDF designed the study, wrote and edited the manuscript. All authors read and approved the final manuscript.

  • Funding This work was funded by a Canadian Institutes of Health Research Grant to WDF (FDN-148390).

  • Competing interests WDF reports grants from Canadian Institutes of Health Research, during the conduct of the study; grants from Astra Zeneca, outside the submitted work.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.