KBG syndromeResearch
A study published on PubMed details the clinical and molecular spectrum of KBG syndrome in the largest independent Turkish cohort. It identifies novel ANKRD11 variants and 16q24.3 deletions, providing structural insights for improved variant interpretation.
clinical and molecular spectrum of kbg syndrome in the largest independent turkish cohort novel ankrd11 variants 16q24 3 deletions and structural insights for robust ankrd11 variant interpretation
Original title: “Clinical and Molecular Spectrum of KBG Syndrome in the Largest Independent Turkish Cohort: Novel ANKRD11 Variants, 16q24.3 Deletions, and Structural Insights for Robust ANKRD11 Variant Interpretation.”