1. The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies;Herrmann;Birth Defects Orig Artic Ser,1975
2. Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients;Martinez-Cayuelas;J Med Genet,2023
3. Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature;Peluso;J Med Genet,2023
4. Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia;Sirmaci;Am J Hum Genet,2011
5. KBG syndrome: Common and uncommon clinical features based on 31 new patients;Gnazzo;Am J Med Genet A,2020