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Juvy L. Rabelas

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Case report Open access Aug 2026

An Adult Presentation of KIF11-Related MCLID Syndrome: Case Report and 40-Year Follow-Up.

Call for the consideration of KIF11 variants in the differential diagnosis of syndromic developmental delay and microcephaly in adults and underlines the diagnostic as well as the prognostic importance of detailed genetic and phenotypic analysis, particularly in cases with de novo variants.

Thrishna Chathurvedula, Juvy L. Rabelas, Kareem Touleimat et al. · 0 citations

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