Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search
Article in Orphanet Journal of Rare Diseases (August 2024)
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Epilepsy in KBG Syndrome: Report of Additional Cases
Article in Pediatric Neurology (December 2023)
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome
Article in Epilepsia Open (August 2023)