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Article

X-linked juvenile retinoschisis: mutations at the retinoschisis and Norrie disease gene loci?

Journal of human genetics - 1 Jan 2001

Hiraoka M, Rossi F, Trese M T, Shastry B S

Abstract excerpt

Juvenile retinoschisis (RS) and Norrie disease (ND) are X-linked recessive retinal disorders. Both disorders, in the majority of cases, are monogenic and are caused by mutations in the RS and ND genes, respectively. Here we report the identification of a family in which mutations in both the RS and ND genes are segregating with RS pathology. Although the mutations identified in this report were not functionally...

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PMID: 11281412
DOI: 10.1007/s100380170108

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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