Kim, Hyung-Goo http://orcid.org/0000-0003-4497-4686
Rosenfeld, Jill A.
Scott, Daryl A.
Bénédicte, Gerard
Labonne, Jonathan D.
Brown, Jason
McGuire, Marianne
Mahida, Sonal
Naidu, Sakkubai
Gutierrez, Jacqueline
Lesca, Gaetan
des Portes, Vincent
Bruel, Ange-Line
Sorlin, Arthur
Xia, Fan
Capri, Yline
Muller, Eric
McKnight, Dianalee
Torti, Erin
Rüschendorf, Franz
Hummel, Oliver
Islam, Zeyaul
Kolatkar, Prasanna R.
Layman, Lawrence C.
Ryu, Duchwan
Kong, Il-Keun
Madan-Khetarpal, Suneeta
Kim, Cheol-Hee
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)
Article History
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.