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
Knock-in human GDF5 proregion L373R mutation as a mouse model for proximal symphalangism.
Zhang X et al.
Oncotarget, 2017
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
Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family.
Farooq M et al.
Human Genetics, 2013
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
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.
Tassabehji M et al.
Human Mutation, 2008
Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1.
Schwabe GC et al.
American Journal of Medical Genetics. Part A, 2004
The mutational spectrum of brachydactyly type C.
Everman DB et al.
American Journal of Medical Genetics, 2002
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