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Article History

Received: 16 May 2016

Accepted: 27 March 2018

First Online: 4 April 2018

Ethics approval and consent to participate

: Approval of the Institutional Ethics Committee of Army Hospital (Referral & Research) New Delhi was taken prior to submitting the paper for publication. Written informed consent was taken from the parents for clinical assessment and testing.

: Written informed consent was taken from the parents for publication of the data, images and video of the index case as well as sequencing data of the parents’ genome.

: The authors declare they have no competing interests

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