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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
KAT6A Syndrome
Do dusty A stars exhibit accretion signatures in their photospheres?