Associated Papers
Genetic Landscape of Robin Sequence: A Systematic Review.
van de Velde S et al.
Clinical Genetics, 2026
41077824 (PubMed )
Supplement: CGE-109-218-s001.pdf
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
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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