Funding for this research was provided by:
Medical Research Council (G1002279)
Higher Education Commission, Pakistan
Received: 25 October 2016
Accepted: 24 January 2018
First Online: 20 February 2018
Ethics approval and consent to participate
: Blood samples were collected from the proband and her family members. The study was approved by the Institutional Review Boards of Quaid-i-Azam University, Shifa International Hospital, Shifa Tameer e Millat University, Islamabad, Pakistan and University of Exeter, UK. Written informed consent was obtained from all family members who participated in the study.
: The participants included in this study signed a written informed consent to publish their data (the parents signed on the behalf of the children).
: The authors declare that they have no competing interests.
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