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 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 GDF5 presenting as semidominant brachydactyly A1.
Byrnes AM et al.
Human Mutation, 2010
Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism.
Yang W et al.
Journal of Human Genetics, 2008
A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families.
Wang X et al.
American Journal of Medical Genetics. Part A, 2006
A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2.
Kjaer KW et al.
Journal of Medical Genetics, 2006
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
Select a paper to view details