Grebe dysplasia
Definition:
References:
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[1]. J T Thomas, et al. Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1. Nat Genet. 1997 Sep;17(1):58-64. [Content Brief]
[2]. Muhammad Faiyaz-Ul-Haque, et al. Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia. Am J Med Genet. 2002 Jul 22;111(1):31-7. [Content Brief]
[3]. Ravi Savarirayan, et al. Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families. Am J Med Genet A. 2003 Mar 1;117A(2):136-42. [Content Brief]
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