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Article History

Received: 15 October 2018

Accepted: 25 March 2019

First Online: 2 May 2019

Ethics approval and consent to participate

: All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation and with the Helsinki Declaration of 1975, as revised in 2000. The protocol was approved by the Ethical Review Board of the Hoshi General Hospital (no. 20011201) and conformed to the ethical guidelines for human genome studies. MLPA analysis was performed in patients who were referred to genetic counselling clinics at the Hoshi General Hospital. After genetic counselling, written informed consent was obtained from their family members for genetic analysis. The protocol was approved by the Ethical Review Board of the Hoshi General Hospital and conformed to the ethical guidelines on human genome studies. Additional informed consent was obtained from all individual participants for whom identifying information was included in this article. According to the genetic screening and test, the approval of the Ethical Review Board was obtained in all families. The family of this article and 2 families agreed to an article contribution to BMC, and the approval of the Ethical Review Board was obtained in these 3 families. We cannot were unable to obtain communication with other families, because they either passed away or evacuated due to the aftermath of the nuclear power plant leak caused by the 2011 Great East Japan Earthquake and tsunami.

: Written informed consents for publication of their clinical details was obtained from the patient and all the participants.

: The authors declare that they have no competing interests.

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