Abstract Smith‐Kingsmore Syndrome (SKS) is a rare genetic syndrome associated with
megalencephaly, a variable intellectual disability, autism spectrum disorder, and MTOR gain …

Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant disorder caused by
heterozygous germline activating pathogenic variants in mammalian target of rapamycin …

We present for the first-time efficacy and tolerability of GLP-1-RA (Semaglutide) in Smith-
Kingsmore syndrome (SKS). SKS is a rare genetic disorder characterized by intellectual …

Abstract Background Smith-Kingsmore syndrome (SKS) is a rare autosomal dominant
disorder caused by de novo mutations of gene MTOR in most cases and germline …

Since its inception over 20 years ago, the knowledge on autoinflammation and
autoinflammatory diseases has grown exponentially, in part due to the development of next …

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder, currently
diagnosed in more than 2% of children. The core symptoms of ASD are impairments in …

Developmental disorders (DD) are a diverse group of chronic conditions characterized by
significant limitations to both mental and physical development. Genetic variants have been …

Abstract Smith-Kingsmore Syndrome is a very rare autosomal dominant intellectual disability
syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic …