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KIF21A variant R954W in familial or sporadic cases of CFEOM1
European Journal of Ophthalmology, 06/18/09
Rudolph G et al. - The patients included in the study had marked restriction of movement bilaterally with nearly complete loss of vertical ocular motility, graded reduction of horizontal motility, ptosis, and compensatory chin elevation. The phenotype was variable in patients carrying the same mutation. The screening data suggest frequent and exclusive appearance of the R454W variant in sporadic and familial cases of CFEOM1 in Germany.
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