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_MOESM1_ESM.xlsx › Sheet1
Care pathways in childhood neurodevelopmental disorders: Toward greater awareness of KBG syndrome among pediatricians.
Adamo-Croux M et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 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
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
Congenital heart defects in molecularly confirmed KBG syndrome patients.
Digilio MC et al.
American Journal of Medical Genetics. Part A, 2022
Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.
Ye Y et al.
Experimental Hematology & Oncology, 2021
33546774 (PubMed )
Supplement: 40164_2021_200_MOESM2_ESM.xlsx › Table_S2
Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
Alves RM et al.
Bmc Medical Genetics, 2019
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