Funding for this research was provided by:
Korean Ministry of Trade, Industry and Energy (10063396)
National Research Foundation (NRF) of Korea (2018M3A9B8021980)
Qatar Biomedical Research Institute (Startup Funding)
Received: 3 June 2019
Accepted: 1 September 2019
First Online: 22 October 2019
Ethics approval and consent to participate
: All study participants have given written informed consent, and the genetic study has been approved by the Augusta University Institutional Review Board.
: All participating families agreed to publish the clinical description and photos.
: The Department of Molecular and Human Genetics at Baylor College of Medicine receives revenue from clinical genetic testing conducted by Baylor Genetics Laboratory. Dianalee McKnight and Erin Torti are employees of GeneDx, Inc., a wholly owned subsidiary of OPKO Health, Inc. The other authors declare that they have no competing interests.