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
A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review.
Faryal S et al.
European Journal of Medical Genetics, 2021
Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C.
Al-Qattan MM et al.
American Journal of Medical Genetics. Part A, 2015
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
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