A novel X-linked dominant condition: X-linked congenital isolated ptosis.
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ABSTRACT:
SUBMITTER: McMullan TF
PROVIDER: S-EPMC1288214 | biostudies-literature | 2000 Apr
REPOSITORIES: biostudies-literature
Publications
A novel X-linked dominant condition: X-linked congenital isolated ptosis.
McMullan T F TF Collins A R AR Tyers A G AG Robinson D O DO
American journal of human genetics 20000314 4
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. ...[more]
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