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Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene

Crossref DOI link: https://doi.org/10.1186/s13023-021-01914-1

Published Online: 2021-06-26

Published Print: 2021-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Bukowska-Olech, Ewelina https://orcid.org/0000-0003-0509-1696
Gawliński, Paweł https://orcid.org/0000-0002-3672-5834
Jakubiuk-Tomaszuk, Anna

Jędrzejowska, Maria https://orcid.org/0000-0002-2820-9362
Obersztyn, Ewa https://orcid.org/0000-0002-3044-9517
Piechota, Michał

Bielska, Marta https://orcid.org/0000-0003-1446-532X
Jamsheer, Aleksander https://orcid.org/0000-0003-4058-3901
Funding

Funding for this research was provided by:

Narodowe Centrum Nauki (2016/23/N/NZ5/02577, 2016/22/E/NZ5/00270, 2015/19/B/NZ2/01824)

Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu (502-14-11261860-41259)
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Article History

Received: 25 April 2021

Accepted: 13 June 2021

First Online: 26 June 2021

Declarations

:

: According to the Good Clinical Practice and Polish law, the studies involving human participants were reviewed and approved by the Bioethics Committee at Poznan University of Medical Sciences (no. 741/17 and 742/17). All patients and their parents agreed to participate in this study. Written informed consent to participate in this study was provided by the participant’s legal guardian/next of kin. Written informed consent was obtained from the minor(s)’ legal guardian/next of kin to publish any potentially identifiable images or data included in this article.

: The authors declare that they have no competing interests.

: ClinVar: . Face2Gene: . gnomAD: . HGMD: . OMIM: . Primer3: . Varsome: .

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