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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.

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

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引用本文的文献

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Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype.低氏综合征:与 RNU4ATAC 相关的进一步证据,以及基因型与表型的相关性。
Hum Genet. 2018 Dec;137(11-12):905-909. doi: 10.1007/s00439-018-1950-8. Epub 2018 Oct 27.
2
The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.RNU4ATAC 致病变异的表型扩展至洛里·伍德综合征。
Am J Med Genet A. 2018 Feb;176(2):465-469. doi: 10.1002/ajmg.a.38581. Epub 2017 Dec 19.