Associated Papers
Computational analysis of prodomain cysteines in human TGF-β proteins reveals frequent loss of disulfide-dependent regulation in tumors.
Daly SM et al.
G3 (bethesda, Md.), 2022
Frameshift Mutation in a Chinese Patient with Brachydactyly Type C Involving the Third Metacarpal: A Case Report.
Li Q et al.
Orthopaedic Surgery, 2022
Diagnostic yield of exome sequencing in congenital vertical talus.
Tayebi N et al.
European Journal of Medical Genetics, 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
Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement.
Seo SH et al.
Annals of Laboratory Medicine, 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
Mutations in GDF5 presenting as semidominant brachydactyly A1.
Byrnes AM et al.
Human Mutation, 2010
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
GDF5 is a second locus for multiple-synostosis syndrome.
Dawson K et al.
American Journal of Human Genetics, 2006
A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2.
Kjaer KW et al.
Journal of Medical Genetics, 2006
Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene.
Szczaluba K et al.
American Journal of Medical Genetics. Part A, 2005
Variable hand and foot abnormalities in family with congenital vertical talus and CDMP-1 gene mutation.
Dobbs MB et al.
Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society, 2005
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
Clinical and molecular analysis of Grebe acromesomelic dysplasia in an Omani family.
Al-Yahyaee SA 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
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