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
Congenital heart defects in molecularly confirmed KBG syndrome patients.
Digilio MC et al.
American Journal of Medical Genetics. Part A, 2022
Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study.
Alfieri P et al.
Journal of Clinical Medicine, 2021
KBG syndrome: Common and uncommon clinical features based on 31 new patients.
Gnazzo M et al.
American Journal of Medical Genetics. Part A, 2020
Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG syndrome.
Alfieri P et al.
Brain Sciences, 2019
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