Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population - Mumtaz, Sara; Riaz, Hafiza Fizzah; Touseef, Mohammad; Basit, Sulman; Faiyaz Ul Haque, Muhammad; Malik, Sajid (Pakistan journal of medical sciences, 2015)
Keywords: Case Report; Pakistan; Dwarfism; Pakistani subject; Acromesomelic dysplasia; CDMP1; GDF5; Grebe syndrome