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Article History

Received: 22 October 2018

Accepted: 24 July 2019

First Online: 31 July 2019

Ethics approval and consent to participate

: Our paper is a retrospective analysis of diagnostic processes and clinical findings, thus ethics committee approval was not required. All the participants gave their written informed consent prior to genetic testing being done. All procedures performed in the studies involving human participants were undertaken in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

: Written consents for the publication of the personal data as well as photographs included in the paper were obtained. Written informed consent for the publication of personal data of a minor (minor half-sister of the proband, II:4) were obtained from her parents.

: The authors declare that they have no competing interests.