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Results: 3

Authors: Murray, Louann W. Bautista, Jose James, Payton L. Rimoin, David L.
Citation: W. Murray, Louann et al., Type II collagen defects in the chondrodysplasias. I. spondyloepiphyseal dysplasias, American journal of human genetics , 45-I(1), 1989, pp. 5-15

Authors: Cohn, Daniel H. Ehtesham, Nadia Krakow, Deborah Unger, Sheila Shanske, Alan Reinker, Kent Powell, Berkley R. Rimoin, David L.
Citation: H. Cohn, Daniel et al., Mental Retardation and Abnormal Skeletal Development (Dyggve-Melchior-Clausen Dysplasia) Due to Mutations in a Novel, Evolutionarily Conserved Gene, American journal of human genetics , 72(2), 2003, pp. 419-428

Authors: Lee, Hane Graham, John M. Rimoin, David L.
Citation: Lee, Hane et al., Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis, American journal of human genetics (Online) AJHG , 90(4), 2012, pp. 746-751
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