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Malan syndrome
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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
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency
Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome
De novo variants in CNOT1, a central component of the CCR4-NOT complex involved in gene expression and RNA and protein stability, cause neurodevelopmental delay
Further delineation of Malan syndrome