A novel X-linked dominant condition: X-linked congenital isolated ptosis.
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- Record sourced from PubMed, PMID 10739771.
- Also identified by PMC identifier 1288214.
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Abstract
We present a large family with a previously undescribed condition: X-linked dominant congenital bilateral isolated ptosis. Linkage analysis defined a critical region between Xq24 and Xq27.1, with a maximum single-point LOD score of 2.88 at DXS1047 and DXS984. Male and female family members are equally affected, providing an example of an X-linked, truly dominant condition.
Medical subject headings
- Blepharoptosis
- Genes, Dominant
- Genetic Linkage
- X Chromosome