Cornelia de Lange syndrome (CdLS) is a genetic disease that exemplifies the evolution of
knowledge in the field of rare genetic disorders. Originally described as a unique pattern of …

Chromatinopathies can be defined as a class of neurodevelopmental disorders caused by
mutations affecting proteins responsible for chromatin remodeling and transcriptional …

Abstract Genetic variants in Ankyrin Repeat Domain 11 (ANKRD11) and deletions in 16q24.
3 are known to cause KBG syndrome, a rare syndrome associated with craniofacial …

KBG syndrome (KBGS) is characterized by distinctive facial gestalt, short stature and
variable clinical findings. With ageing, some features become more recognizable, allowing a …

Pathogenic variants in ANKRD11 or microdeletions at 16q24. 3 are the cause of KBG
syndrome (KBGS), a neurodevelopmental syndrome characterized by intellectual disability …

Abstract Tandem Repeat Proteins (TRPs) are a class of proteins with repetitive amino acid
sequences that have been studied extensively for over two decades. Different features at the …

KBG syndrome (KBGS) is a rare autosomal dominant inherited disease that involves
multiple systems and is associated with variations in the ankyrin repeat domain 11 …

KBG syndrome (KBGS) is a neurodevelopmental disorder caused by the Ankyrin Repeat
Domain 11 (ANKRD11) haploinsufficiency. Here, we report the molecular investigations …

Abstract Cornelia de Lange syndrome (CdLS) is a rare congenital developmental disorder
with multisystemic involvement. The clinical presentation is highly variable, but the classic …

Background KBG syndrome is a highly variable neurodevelopmental disorder and clinical
diagnostic criteria have changed as new patients have been reported. Both loss-of-function …