Associated Papers
Knock-in human GDF5 proregion L373R mutation as a mouse model for proximal symphalangism.
Zhang X et al.
Oncotarget, 2017
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
Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C.
Stange K et al.
Journal of Molecular Biology, 2014
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.
Farooq M et al.
Human Genetics, 2013
Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population.
Mumtaz S et al.
Pakistan Journal of Medical Sciences, 0
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