Associated Papers
Automated fingerprint analysis as a diagnostic tool for the genetic disorder Kabuki syndrome.
Agustsson VI et al.
Genetics in Medicine Open, 2024
39669635 (PubMed )
Supplement: mmc1.pdf
Unmasking the challenges of Kabuki syndrome in adulthood: A case series.
Priestley JRC et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2023
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.
Foroutan A et al.
International Journal of Molecular Sciences, 2022
35163737 (PubMed )
Supplement: ijms-23-01815-s001.zip › ijms-1541287-supplementary_materials › Supplementary_Files › Table_S1.xlsx › Sheet2
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.
Butcher DT et al.
American Journal of Human Genetics, 2017
28475860 (PubMed )
Supplement: mmc1.pdf
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