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J Med Genet. 1973 March; 10(1): 11–16.
PMCID: PMC1012968

Observations Suggesting Allelism of the Achondroplasia and Hypochondroplasia Genes

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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Selected References

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  • McKusick VA, Howell RR, Hussels IE, Neufeld EF, Stevenson RE. Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses. Lancet. 1972 May 6;1(7758):993–996. [PubMed]
  • Walker BA, Murdoch JL, McKusick VA, Langer LO, Beals RK. Hypochondroplasia. Am J Dis Child. 1971 Aug;122(2):95–104. [PubMed]

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