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
[Brachydactyly type C due to a nonsense mutation in the GDF5 gene].
Travieso-Suárez L et al.
Anales De Pediatria, 2018
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
[Advances in the molecular genetics of brachydactyly].
Guo Y et al.
Yi Chuan = Hereditas, 2012
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
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