Received: 18 May 2020
Accepted: 25 August 2020
First Online: 16 September 2020
Ethics approval and consent to participate
: Due to the rarity of mutations and the condition of our patient, written informed consent was obtained from her parents to use her data for research purposes.This study was approved by the University and Clinic’s Research and Ethics Committees.An informed written consent to participate in our study was obtained from the patient’s parents and the members of the father’s family members for laboratory work-up and DNA analysis.
: A separate informed written consent was obtained from the patient’s parents and the father’s family members regarding their own and their child’s clinical details, research findings, and data for publication purposes.
: The authors declare that they have no competing interests.