Associated Papers
Zebrafish as a model for Catel-Manzke syndrome-identification and characterization of the zebrafish TGDS ortholog.
Coppola MR et al.
The Febs Journal, 2025
TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy.
Boschann F et al.
American Journal of Medical Genetics. Part A, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.
Ehmke N et al.
American Journal of Human Genetics, 2014
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