Two novel homozygous missense mutations in theGDF5gene cause brachydactyly type C

Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family

(2013) Muhammad Farooq et al.   HUMAN GENETICS

Embryology of familial (non-syndromic) brachydactyly of the hand

(2013) M. M. Al-Qattan   Journal of Hand Surgery-European Volume

Identification of aGDF5Mutation in a Korean Patient with Brachydactyly Type C without Foot Involvement

(2013) Soo Hyun Seo et al.   Annals of Laboratory Medicine

Genetic contribution to radiographic severity in osteoarthritis of the knee

(2012) Ana M Valdes et al.   ANNALS OF THE RHEUMATIC DISEASES

A novel mutation in CDMP1 causes brachydactyly type C with “angel-shaped phalanx”. A genotype–phenotype correlation in the mutational spectrum

(2012) Bianca Ethel Gutiérrez-Amavizca et al.   European Journal of Medical Genetics

Mutations in GDF5 presenting as semidominant brachydactyly A1

(2010) Ashley M. Byrnes et al.   HUMAN MUTATION

A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family

(2008) Sulman Basit et al.   BMC Medical Genetics

Brachydactyly type A2 associated with a defect in proGDF5 processing

(2008) Frank Plöger et al.   HUMAN MOLECULAR GENETICS

Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism

(2008) Wei Yang et al.   JOURNAL OF HUMAN GENETICS

Brachydactyly

(2008) Samia A Temtamy et al.   Orphanet Journal of Rare Diseases