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
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
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
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
Mutations in CDMP1 cause autosomal dominant brachydactyly type C.
Polinkovsky A et al.
Nature Genetics, 1997
Grebe dysplasia and the spectrum of CDMP1 mutations.
Stelzer C et al.
Pediatric Pathology & Molecular Medicine, 0
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