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
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