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Observations Suggesting Allelism of the Achondroplasia and Hypochondroplasia Genes
  1. Victor A. McKusick,
  2. Thaddeus E. Kelly,
  3. John P. Dorst
  1. Division of Medical Genetics, Department of Medicine, Johns Hopkins University School of Medicine and Johns Hopkins Hospital, Baltimore, Maryland 21205, USA

    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.

    https://doi.org/10.1136/jmg.10.1.11

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