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. 1973 Mar;10(1):11–16. doi: 10.1136/jmg.10.1.11

Observations Suggesting Allelism of the Achondroplasia and Hypochondroplasia Genes

Victor A McKusick 1, Thaddeus E Kelly 1, John P Dorst 1
PMCID: PMC1012968  PMID: 4697848

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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  1. 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]
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