Condition: Brachydactyly type C


rs28936397 in GDF5 gene and Brachydactyly type C PMID 25092592 2014 Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C.

PMID 25820810 2015 Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C.

PMID 14735582 2004 Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1.

PMID 22828468 2012 "A novel mutation in CDMP1 causes brachydactyly type C with ""angel-shaped phalanx"". A genotype-phenotype correlation in the mutational spectrum."