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. 1998 Mar;35(3):248–250. doi: 10.1136/jmg.35.3.248

Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.

M L Carey 1, T B Friedman 1, J H Asher Jr 1, J W Innis 1
PMCID: PMC1051252  PMID: 9541113

Abstract

A four generation family (UoM1) was ascertained with Waardenburg syndrome type 1 (WS1). The proband exhibited both WS1 and septo-optic dysplasia. A G to C transversion was identified in PAX3 exon 7 in four subjects affected with WS1 in this family including the proband. This glutamine to histidine missense mutation at position 391 may also affect splicing. There are over 50 mutations characterised in PAX3 in WS1 patients; however, this is the first example of a WS1 mutation in exon 7 of PAX3.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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