Observations Suggesting Allelism of the Achondroplasia and Hypochondroplasia Genes
V.A. McKusick(University of Baltimore), John P. Dorst(Johns Hopkins University), Thaddeus E. Kelly(Dundalk Institute of Technology)
Cited by 70
Related Papers
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
|Nature Genetics|2001|3.4k
International nosology of heritable disorders of connective tissue, Berlin, 1986
|American Journal of Medical Genetics|1988|733
Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister‐Killian syndrome): Report of 11 cases
|American Journal of Medical Genetics|1987|140
Teratogenicity of anticonvulsant drugs. I: Review of the literature
|American Journal of Medical Genetics|1984|129
Synthesis of a shortened pro-alpha 2(I) chain and decreased synthesis of pro-alpha 2(I) chains in a proband with osteogenesis imperfecta.
|Journal of Biological Chemistry|1983|107