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
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
Congenital heart defects in molecularly confirmed KBG syndrome patients.
Digilio MC et al.
American Journal of Medical Genetics. Part A, 2022
KBG syndrome: Common and uncommon clinical features based on 31 new patients.
Gnazzo M et al.
American Journal of Medical Genetics. Part A, 2020
Select a paper to view details