Identification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia: evidence of digenic inheritance

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Acknowledgements

We thank all the participants for their collaboration. This study was supported by the CAMS Innovation Fund for Medical Sciences (No. 2021-I2M-1-052) and the Research Funds from CAMS Plastic Surgery Hospital (Nos. YS202036 and YS202003).

Electronic Supplementary Material

Supplementary material is available in the online version of this article at https://doi.org/10.1007/s11684-023-1000-3 and is accessible for authorized users.

Compliance with ethics guidelines

Conflicts of interest Nuo Si, Guoqin Zhan, Xiaolu Meng, Zeya Zhang, Xin Huang, and Bo Pan declare that they have no conflict of interest.

The study was approved by the appropriate institutional and/or national research ethics committee (the ethics committee of Plastic Surgery Hospital of Peking Union Medical College and Chinese Academy of Medical Science) and the study was performed in accordance with the ethical standards as laid down in the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards. Informed consent was obtained from all patients for being included in the study.

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