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
Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type-grebe in consanguineous families.
Umair M et al.
Congenital Anomalies, 2017
Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?
Stange K et al.
Journal of Human Genetics, 2015
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
Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5.
Faiyaz-Ul-Haque M et al.
Journal of Bone and Mineral Metabolism, 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
Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families.
Savarirayan R et al.
American Journal of Medical Genetics. Part A, 2003
The mutational spectrum of brachydactyly type C.
Everman DB et al.
American Journal of Medical Genetics, 2002
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