Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism
Author: Ehmke, Nadja; Cusmano-Ozog, Kristina; Koenig, Rainer; Holtgrewe, Manuel; Nur, Banu; Mihci, Ercan; Babcock, Holly; Gonzaga-Jauregui, Claudia; Overton, John D.; Xiao, Jing; Martinez, Ariel F.; Muenke, Maximilian; Balzer, Alexander; Jochim, Judith; El Choubassi, Naji; Fischer-Zirnsak, Björn; Huber, Céline; Kornak, Uwe; Elsea, Sarah H.; Cormier-Daire, Valérie; Ferreira, Carlos R.
Year Published: 2020
Media Outlet: Bone
Open Access? Yes
Matrix: Plasma and Serum, Urine
Biological Themes: Other
Product(s): Global Discovery Panel
Cited in over 3,000 publications, we help scientists and manufacturers gain greater insight into their studies through metabolomics.
Contact Us
Talk with an expert
Request a quote for our services, get more information on sample types and handling procedures, request a letter of support, or submit a question about how metabolomics can advance your research.
Corporate Headquarters
617 Davis Drive, Suite 100
Morrisville, NC 27560
Mailing Address:
P.O. Box 110407
Research Triangle Park, NC 27709
+1 (919) 572-1711
+1 (919) 572-1721
International Headquarters
Metabolon GmbH
Zeppelinstraße 3
85399 Hallbergmoos
Germany
