Clinical and Molecular Delineation of KAT6B -Related Disorders: Novel Variants and Refined Genotype-Phenotype Correlations.
Vito Luigi Colona, Maria Gnazzo, Annalidia Donato et al.
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From the abstract
KAT6B-related disorders (KRDs) comprise a spectrum of developmental disorders ranging from Genitopatellar syndrome (GPS) to Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS), with increasing recognition of intermediate phenotypes.