Abstract
It is argued that there are at least two alleles at the achondroplasia locus: one responsible for classic achondroplasia and one responsible for hypochondroplasia. Homozygosity for the achondroplasia gene produces a lethal skeletal dysplasia; homozygosity for hypochondroplasia has not been described. We report here a child considered to be a genetic compound for the achondroplasia and hypochondroplasia alleles.
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- McKusick V. A., Howell R. R., Hussels I. E., Neufeld E. F., Stevenson R. E. Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses. Lancet. 1972 May 6;1(7758):993–996. doi: 10.1016/s0140-6736(72)91159-2. [DOI] [PubMed] [Google Scholar]
- Walker B. A., Murdoch J. L., McKusick V. A., Langer L. O., Beals R. K. Hypochondroplasia. Am J Dis Child. 1971 Aug;122(2):95–104. doi: 10.1001/archpedi.1971.02110020029001. [DOI] [PubMed] [Google Scholar]