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A Novel X-Linked Dominant Condition: X-Linked Congenital Isolated Ptosis

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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.

Congenital ptosis
Chromosome X
Oculomotor nerve

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