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Written informed consent was obtained. Patients were enrolled in clinical protocols 95 H-0186 (Clinical Trials NCT00001465), 96 H-0100 (Clinical Trials NCT00001532) and/or 76-HG-0238 (Clinical Trials NCT00369421). The patients were enrolled in the National Institute of Health (NIH) Undiagnosed Diseases Programme.9–11 Clinical evaluations were performed at the NIH Clinical Centre in Bethesda, Maryland, USA.
Copyright and License information: ©2018-11-01 Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.
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