A novel X-linked dominant condition: X-linked congenital isolated ptosis |
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| Authors: | McMullan T F Collins A R Tyers A G Robinson D O |
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| Affiliation: | Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, United Kingdom. TFWMCM@aol.com |
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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. |
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