Article
Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.
Bone - 1 Apr 2020
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
Abstract excerpt
Catel-Manzke syndrome is characterized by the combination of Pierre Robin sequence and radial deviation, shortening as well as clinodactyly of the index fingers, due to an accessory ossification center. Mutations in TGDS have been identified as one cause of Catel-Manzke syndrome, but cannot be found as causative in every patient with the clinical diagnosis. We performed a chromosome microarray and/or exome...
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