Novel de novo Intronic KAT6B Variant in 9-year-old Female Adds to the Wide Phenotypic Spectrum of KAT6B Disorders
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Co-Author - Lingying Liu, CGC; Presenting Author - Paul R. Hillman, MD/PhD;
Meta Tag
Clinical History
Cognitive Disorders
Delineation of Diseases
Exome sequencing
Genotype-Phenotype Correlations
Musculoskeletal system
Phenotype
Phenotypic delineation of disorders
Co-Author Lingying Liu, CGC
Presenting Author Paul R. Hillman, MD/PhD
Keywords
9-year-old female patient
physical symptoms
developmental symptoms
KAT6B gene
KAT6B disorders
SBBYSS facial features
psychiatric issues
autism spectrum disorder
TRRAP gene
TRRAP-related disorders

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