Associated Papers
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D et al.
Genome Medicine, 2025
40963120 (PubMed )
Supplement: 13073_2025_1516_MOESM1_ESM.xlsx › S1_Cohort
Knock-in human GDF5 proregion L373R mutation as a mouse model for proximal symphalangism.
Zhang X et al.
Oncotarget, 2017
Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5.
Martinez-Garcia M et al.
Journal of Bone and Mineral Metabolism, 2016
TGF-β and BMP signaling in osteoblast, skeletal development, and bone formation, homeostasis and disease.
Wu M et al.
Bone Research, 2016
Proteome-wide analysis of human disease mutations in short linear motifs: neglected players in cancer?
Uyar B et al.
Molecular Biosystems, 2014
25057855 (PubMed )
Supplement: MB-010-C4mb00290c-s003.zip › Supplementary_file_22.xlsx › pred.omim12.cos1_-_DONE
Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C.
Stange K et al.
Journal of Molecular Biology, 2014
A novel mutation in CDMP1 causes brachydactyly type C with "angel-shaped phalanx". A genotype-phenotype correlation in the mutational spectrum.
Gutiérrez-Amavizca BE et al.
European Journal of Medical Genetics, 2012
Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia.
Douzgou S et al.
American Journal of Medical Genetics. Part A, 2008
Brachydactyly type A2 associated with a defect in proGDF5 processing.
Plöger F et al.
Human Molecular Genetics, 2008
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