Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism

Autor: 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.
Zdroj: In Bone April 2020 133
Databáze: ScienceDirect
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