Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation associated with KIF11 pathogenic variant: case report and genotype-phenotype correlation analysis

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation associated with KIF11 pathogenic variant: case report and genotype-phenotype correlation analysis

Abstract Background Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) is a rare autosomal dominant disease caused by variants in the KIF11 gene. Additionally, recent advances in genetic testing have led to the increasing identification of KIF11 gene variants i...

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Bibliographic Details
Main Authors: Jiajia Peng, Yan Xie, Hui Wang, Lijuan Huang, Yangfan Yang, Ningdong Li
Format: Article
Language:English
Published: BMC 2025-07-01
Series:BMC Ophthalmology
Subjects:
Microcephaly
Chorioretinopathy
Mental retardation
KIF11 gene
Online Access:https://doi.org/10.1186/s12886-025-04261-y
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