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

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.