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
GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations.
Genovesi ML et al.
Bone, 2021
Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type-grebe in consanguineous families.
Umair M et al.
Congenital Anomalies, 2017
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
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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