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Article

Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)]

1 Jul 1994

Abstract excerpt

This paper reports a further case of blepharophimosis, ptosis, epicanthus inversus (BPES) syndrome associated with a reciprocal translocation [46,XY,t(3;7)(q23;q32)], involving band 3q23. This case supports the assignment of a BPES gene(s) to the 3q23 region.

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Identifiers

PMID: 8074155
DOI: 10.1002/ajmg.1320510317

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Source receipt: pubmed, retrieved 7 Sept 2026.

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