Associated Papers
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
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
37586838 (PubMed )
Supplement: jmg-2023-109141supp003.xlsx › ST5
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
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
Ockeloen CW et al.
European Journal of Human Genetics : Ejhg, 2015
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