Epiphyseal dysplasia, microcephaly, nystagmus, and retinitis pigmentosa.
作者信息
Lowry R B, Wood B J, Cox T A, Hayden M R
机构信息
Department of Pediatrics, University of Calgary, Alberta, Canada.
出版信息
Am J Med Genet. 1989 Jul;33(3):341-5. doi: 10.1002/ajmg.1320330311.
PMID:2801768
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.
摘要
Zotero 插件