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PurposeMicrocephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is an autosomal dominant condition. Mutations in KIF11 have been found to be causative in approximately 75% of cases. This study describes the ocular phenotype in patients with confirmed KIF11 mutations.
MethodsStandard ophthalmic examination and investigation including visual acuity, refraction and...
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