Genetic and clinical heterogeneity in Korean patients with Rubinstein –Taybi syndrome

ConclusionsTo date, this is the largest cohort of patients with RSTS includingEP300-related patients in Korea. Future large-scale studies to find genetic mutation of molecularly unsolved patients and long-term prospective studies are required to validate our results.

Source: Molecular Genetics & Genomic Medicine - August 24, 2021 Category: Genetics & Stem Cells Authors: Naye Choi, Hwa Young Kim, Byung Chan Lim, Jong ‐Hee Chae, Soo Yeon Kim, Jung Min Ko Tags: ORIGINAL ARTICLE Source Type: research