Associated Papers
A Novel KMT5B Frameshift Variant Presenting with Autism and Psychiatric Features: Intrafamilial Phenotypic Variation - A Case Report.
Özcan S et al.
Molecular Syndromology, 2025
Bridging Genotype to Phenotype in KMT5B-Related Syndrome: Evidence from RNA-Seq, 18FDG-PET, Clinical Deep Phenotyping in Two New Cases, and a Literature Review.
Politano D et al.
Genes, 2025
41153391 (PubMed )
Supplement: genes-16-01174-s001.zip › Supplementary_table_1.xlsx › Foglio1
Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay.
Eliyahu A et al.
Frontiers in Pediatrics, 2022
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
Stessman HA et al.
Nature Genetics, 2017
28191889 (PubMed )
Supplement: NIHMS846201-supplement-1.pdf
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