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
A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia.
Jacobs J et al.
Nature, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2A.Summary_vars_CPGs_MMgenes
The Quebec Dental Anomalies Registry: Identifying genes for rare disorders.
Wredenhagen MS et al.
Pnas Nexus, 2023
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
37010288 (PubMed )
Supplement: supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx › S4
TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy.
Boschann F et al.
American Journal of Medical Genetics. Part A, 2020
Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases.
Ranza E et al.
Clinical Genetics, 2017
Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus.
Schoner K et al.
American Journal of Medical Genetics. Part A, 2017
Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in TGDS.
Pferdehirt R et al.
Molecular Genetics and Metabolism Reports, 2015
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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