Associated Papers
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
Cornelia de Lange Syndrome as Paradigm of Chromatinopathies.
Parenti I et al.
Frontiers in Neuroscience, 2021
KBG syndrome involving a single-nucleotide duplication in ANKRD11.
Kleyner R et al.
Cold Spring Harbor Molecular Case Studies, 2016
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
Ansari M et al.
Journal of Medical Genetics, 2014
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