Associated Papers
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.
Wild KT et al.
Genetics in Medicine Open, 2026
41584744 (PubMed )
Supplement: mmc4.xlsx › Sheet1
Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review.
Aukema SM et al.
American Journal of Medical Genetics. Part A, 2025
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
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
Natural history of KBG syndrome in a large European cohort.
Loberti L et al.
Human Molecular Genetics, 2022
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
Clinical and genetic characteristics of Keishi-Bukuryo-Gan syndrome: an analysis of 5 cases.
Wang S et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2021
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