Novel Variants in KAT6B Spectrum of Disorders Expand Our Knowledge of Clinical Manifestations and Molecular Mechanisms
Molecular Genetics & Genomic Medicine（2021）
关键词
CRISPR,Genitopatellar syndrome,KAT6B-related disorders,phenotypic spectrum,Say-Barber-Biesecker-Young-Simpson syndrome,variable expressivity,rare genetic diagnosis
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