Associated Papers
KBG Syndrome in 16 Indian Individuals.
Bajaj S et al.
American Journal of Medical Genetics. Part A, 2025
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
39135054 (PubMed )
Supplement: 13023_2024_3301_MOESM3_ESM.xlsx › Sheet1
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
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
The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals.
Zacher P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33911214 (PubMed )
Supplement: 41436_2021_1153_MOESM2_ESM.xlsx › Gen_DG
KBG syndrome.
Morel Swols D et al.
Orphanet Journal of Rare Diseases, 2017
29258554 (PubMed )
Supplement: 13023_2017_736_MOESM1_ESM.xlsx › Sheet1
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
Goldenberg A et al.
American Journal of Medical Genetics. Part A, 2016
Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.
Parenti I et al.
Clinical Genetics, 2016
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