Associated Papers
Novel EP300 and NSD1 variants in Chinese pediatric patients with Rubinstein-Taybi syndrome: evidence for oligogenic inheritance and phenotypic expansion.
Ningan X et al.
Bmc Medical Genomics, 2025
Rubinstein Taybi syndrome caused by EP300 gene mutation: what we learned from two cases and literature review.
Wang Y et al.
Frontiers in Genetics, 2025
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