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
A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia.
Jacobs J et al.
Nature, 2025
40836090 (PubMed )
Supplement: 41586_2025_9397_MOESM1_ESM.pdf
The Quebec Dental Anomalies Registry: Identifying genes for rare disorders.
Wredenhagen MS et al.
Pnas Nexus, 2023
TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy.
Boschann F et al.
American Journal of Medical Genetics. Part A, 2020
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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