Skwara, Julia http://orcid.org/0009-0005-2157-4905
Nowicki, Maciej
Sharif, Lucia
Milanowski, Łukasz http://orcid.org/0000-0003-4197-8518
Dulski, Jarosław
Elert-Dobkowska, Ewelina
Skrzypek, Katarzyna
Hoffman-Zacharska, Dorota
Koziorowski, Dariusz
Sławek, Jarosław
Funding for this research was provided by:
Warszawski Uniwersytet Medyczny (NZP/NM1/18)
Article History
Received: 15 March 2024
Accepted: 12 June 2024
First Online: 25 June 2024
Declarations
:
: The study was approved by the ethical review board KB/56/2018.
: All tested individuals consented to genetic testing in terms of analysis of the selected genes and WES (probands), and a specific mutation in the <i>NKX2-1</i> gene (Family B members). Written informed consent has been obtained from the patient(s) for the publication of the videos.
: The authors have no relevant financial or non-financial interests to disclose.