Article

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR)- The new lacunae: A case report

2024-07-19

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is a rare autosomal dominant disease caused by mutations in KIF11 which disrupt EG5 protein function, impacting the development and maintenance of retinal and lymphatic structures due to its expression in the retinal photoreceptor cilia. The primary ocular finding in MCLMR is chori...

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Literature Corpus work: 7f2ca683-274b-54ee-ac34-2b8bcf277c77
DOI: 10.21203/rs.3.rs-4607689/v1

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