Helm, Benjamin M.
Willer, Jason R.
Sadeghpour, Azita
Golzio, Christelle
Crouch, Eric
Vergano, Samantha Schrier
Katsanis, Nicholas http://orcid.org/0000-0002-2480-0171
Davis, Erica E. http://orcid.org/0000-0002-2412-8397
Funding for this research was provided by:
National Institutes of Health (DK072301, EY021872)
Article History
Received: 6 April 2017
Accepted: 29 June 2017
First Online: 19 July 2017
Ethics approval and consent to participate
: The family was consented for research-based genetic testing and establishment of cell lines according to protocols approved by the Duke University Health System Institutional Review Board (Pro00022846). In studies involving animals, all experiments involving the use of zebrafish (<i>Danio rerio</i>) were approved by the Duke University Institutional Animal Care and Use Committee (IACUC).
: Written informed consent for publication of clinical details and clinical images was obtained from the parent of the proband.
: SSV is on the medical advisory board for Ambry Genetics. NK is a paid consultant for and holds significant stock of Rescindo Therapeutics, Inc. All other authors confirmed that they have no competing interests.
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