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Epiphyseal dysplasia, microcephaly, nystagmus, and retinitis pigmentosa.

Abstract
In 1975, we reported two brothers with epiphyseal dysplasia, microcephaly, and nystagmus; one of them also had mild mental retardation. Here we present information on the natural history, particularly with respect to the development of a new visual problem, namely, retinitis pigmentosa.
AuthorsR B Lowry, B J Wood, T A Cox, M R Hayden
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 33 Issue 3 Pg. 341-5 (Jul 1989) ISSN: 0148-7299 [Print] United States
PMID2801768 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Topics
  • Adolescent
  • Bone Diseases, Developmental (genetics)
  • Elbow (diagnostic imaging)
  • Epiphyses
  • Hip (diagnostic imaging)
  • Humans
  • Intellectual Disability (genetics)
  • Male
  • Microcephaly (genetics)
  • Nystagmus, Pathologic (genetics)
  • Radiography
  • Retinitis Pigmentosa (genetics)
  • Syndrome

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