Associated Papers
Knock-in human GDF5 proregion L373R mutation as a mouse model for proximal symphalangism.
Zhang X et al.
Oncotarget, 2017
A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.
Degenkolbe E et al.
Plos 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
A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012.
Cui Y et al.
Orphanet Journal of Rare Diseases, 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
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
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