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.
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Authors | R B Lowry, B J Wood, T A Cox, M R Hayden |
Journal | American journal of medical genetics
(Am J Med Genet)
Vol. 33
Issue 3
Pg. 341-5
(Jul 1989)
ISSN: 0148-7299 [Print] United States |
PMID | 2801768
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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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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