Expanding the Phenotypic Description and Allelic Heterogeneity of the KAT6B-Related Disorder
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Presenting Author - Kadesh A. Daniels, BA; Co-Author - Sarah G. Board, MSc; Co-Author - Courtney Brown, MS; Co-Author - Dima Qu’d, MSc; Co-Author - Beverly Nelson, MD; Co-Author - Dong Li, PhD; Co-Author - Elizabeth J. Bhoj, MD, PhD; Co-Author - Brittany N. Simpson; Co-Author - Andrew K. Sobering, PhD;
Meta Tag
Congenital Anomaly
Intellectual disability
Malformation
Co-Author Sarah G. Board, MSc
Co-Author Courtney Brown, MS
Co-Author Dima Qu’d, MSc
Co-Author Beverly Nelson, MD
Co-Author Dong Li, PhD
Co-Author Elizabeth J. Bhoj, MD, PhD
Co-Author Brittany N. Simpson
Co-Author Andrew K. Sobering, PhD
Presenting Author Kadesh A. Daniels, BA
Keywords
KAT6B-related syndrome
genetic disorder
KAT6B gene
mutations
clinical manifestations
genetic variations
truncation variant
deletion
phenotype
histone acetylation

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