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. 1995 Oct;32(10):774-7.
doi: 10.1136/jmg.32.10.774.

Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24

H S Harrar  1 , S Jeffery, M A Patton
Affiliations

Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24

H S Harrar et al. J Med Genet. 1995 Oct.

Abstract

Blepharophimosis-ptosis is an autosomal dominant disorder in which previous chromosome rearrangements have suggested a putative gene location on the long arm of chromosome 3. This paper confirms the location at 3q21-24 with linkage studies in two large families. A lod score of 3·2 was found with D3S1237.

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