Dr. Victor A. McKusick and the genetics of dwarfism

Clair A. Francomano, David L. Rimoin

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

When Dr. Victor McKusick was awarded the Lasker prize in 1997, he wrote a commentary on his 50 years of observations concerning intestinal polyposis, Marfan syndrome, and achondroplasia. He notes in that paper that achondroplasia came to his interest early in his studies of medical genetics, in keeping with his interest with the heritable disorders of connective tissue. His studies of the Old Order Amish began in 1963, in part, because of a report that achondroplastic dwarfism was unusually frequent in that population. Because achondroplasia is an autosomal dominant disorder with more than 80% of cases arising as a result of new mutations, McKusick postulated that the skeletal dysplasia in the Amish was another condition inherited as an autosomal recessive trait.

Original languageEnglish (US)
Title of host publicationVictor McKusick and the History of Medical Genetics
PublisherSpringer New York
Pages131-135
Number of pages5
Volume9781461416777
ISBN (Electronic)9781461416777
ISBN (Print)1461416760, 9781461416760
DOIs
StatePublished - Dec 1 2012

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)

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