A novel X-linked dominant condition: X-linked congenital isolated ptosis.

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.

SUBMITTER: McMullan TF 

PROVIDER: S-EPMC1288214 | biostudies-literature | 2000 Apr

REPOSITORIES: biostudies-literature