Associated Papers
Ocular manifestations in a cohort of 43 patients with KBG syndrome.
Carter DC et al.
American Journal of Medical Genetics. Part A, 2024
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
ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.
Awamleh Z et al.
Human Molecular Genetics, 2023
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
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