Associated Papers
Frameshift Mutation in a Chinese Patient with Brachydactyly Type C Involving the Third Metacarpal: A Case Report.
Li Q et al.
Orthopaedic Surgery, 2022
Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?
Stange K et al.
Journal of Human Genetics, 2015
Biophysical and structural characterization of a folded core domain within the proregion of growth and differentiation factor-5.
Thieme T et al.
The Febs Journal, 2014
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
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