Kabuki syndrome: international consensus diagnostic criteria
MP Adam, S Banka, HT Bjornsson… - Journal of medical …, 2019 - jmg.bmj.com
Background Kabuki syndrome (KS) is a clinically recognisable syndrome in which 70% of
patients have a pathogenic variant in KMT2D or KDM6A. Understanding the function of …
patients have a pathogenic variant in KMT2D or KDM6A. Understanding the function of …
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
F Peluso, SG Caraffi, G Contrò, L Valeri… - Journal of Medical …, 2023 - jmg.bmj.com
Background KBG syndrome is caused by haploinsufficiency of ANKRD11 and is
characterised by macrodontia of upper central incisors, distinctive facial features, short …
characterised by macrodontia of upper central incisors, distinctive facial features, short …
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes …
JL Granadillo, APA Stegmann, H Guo, K Xia… - Journal of medical …, 2020 - jmg.bmj.com
Background Rare variants in hundreds of genes have been implicated in developmental
delay (DD), intellectual disability (ID) and neurobehavioural phenotypes. TNRC6B encodes …
delay (DD), intellectual disability (ID) and neurobehavioural phenotypes. TNRC6B encodes …