Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24
Open Access
- 1 October 1995
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 32 (10) , 774-777
- https://doi.org/10.1136/jmg.32.10.774
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.Keywords
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