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
Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience.
Kim SJ et al.
Annals of Pediatric Endocrinology & Metabolism, 2024
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.
Buijsse N et al.
Epilepsia Open, 2023
37501353 (PubMed )
Supplement: EPI4-8-1300-s002.xlsx › Blad1
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
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
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
Bestetti I et al.
International Journal of Molecular Sciences, 2022
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
Novel Mutations and Unreported Clinical Features in KBG Syndrome.
Scarano E et al.
Molecular Syndromology, 2019
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