Background KBG syndrome is caused by haploinsufficiency of ANKRD11 and is
characterised by macrodontia of upper central incisors, distinctive facial features, short …

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

Ankyrin repeat domain containing-protein 11 (ANKRD11), a transcriptional factor
predominantly localized in the cell nucleus, plays a crucial role in the expression regulation …

Abstract Ankyrin Repeat Domain 11 (ANKRD11) gene mutations are associated with KBG
syndrome, a developmental disability that affects multiple organ systems. The function of …

Background Recent findings from studies of mouse models of Mendelian disorders of
epigenetic machinery strongly support the potential for postnatal therapies to improve …

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

Phenotypic features of KBG syndrome include craniofacial anomalies, short stature,
cognitive disability and behavioral findings. The syndrome is caused by heterozygous …

Purpose KBG syndrome (KBGS) is a rare neurodevelopmental syndrome caused by
haploinsufficiency of ANKRD11. The childhood phenotype is extensively reported but limited …

KBG syndrome is a rare autosomal dominant condition characterized by multisystem
developmental disorder, primarily caused by loss-of-function variants in ankyrin repeat …

ANKRD11 gene encodes for the large nuclear protein essential for multiple system
development including the nervous system. However, the molecular basis for the proper …