Associated Papers
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Spirito G et al.
Npj Genomic Medicine, 2026
41629344 (PubMed )
Supplement: 41525_2025_547_MOESM2_ESM.xlsx › Table_S16
Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search.
He D et al.
Orphanet Journal of Rare Diseases, 2024
Identification of Two Novel ANKRD11 Mutations: Highlighting Incomplete Penetrance in KBG Syndrome.
Amllal N et al.
Annals of Laboratory Medicine, 2024
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.
Buijsse N et al.
Epilepsia Open, 2023
37501353 (PubMed )
Supplement: EPI4-8-1300-s002.xlsx › Blad1
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Peluso F et al.
Journal of Medical Genetics, 2023
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
Martinez-Cayuelas E et al.
Journal of Medical Genetics, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
37799141 (PubMed )
Supplement: Table1.xlsx › Supplementary_table_1._
KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients.
Guo L et al.
European Journal of Human Genetics : Ejhg, 2022
35970914 (PubMed )
Supplement: 41431_2022_1171_MOESM3_ESM.xlsx › clinvar_20220413.list3.hg19_mul
Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study.
Alfieri P et al.
Journal of Clinical Medicine, 2021
Comprehensive analysis of clinical spectrum and genotype associations in Chinese and literature reported KBG syndrome.
Li Q et al.
Translational Pediatrics, 2021
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