Duane retraction syndrome associated with EP300 variant of Rubinstein-Taybi syndrome

Míreanna comhchosúla

• Prenatal genotype-phenotype correlations in four fetuses with Rubinstein-Taybi syndrome due to EP300 mutations: a case series and literature review
  de réir: Tingting Ge, et al.
  Foilsithe / Cruthaithe: (2026-07-01)
• Rubinstein Taybi syndrome caused by EP300 gene mutation: what we learned from two cases and literature review
  de réir: Yefeng Wang, et al.
  Foilsithe / Cruthaithe: (2025-07-01)
• De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia
  de réir: Xiaoyu Huang, et al.
  Foilsithe / Cruthaithe: (2023-04-01)
• Duane retraction syndrome associated with EP300 variant of Rubinstein-Taybi syndrome
  de réir: Lilly Tran, et al.
  Foilsithe / Cruthaithe: (2024-12-01)
• Novel EP300 and NSD1 variants in Chinese pediatric patients with Rubinstein-Taybi syndrome: evidence for oligogenic inheritance and phenotypic expansion
  de réir: Xu Ningan, et al.
  Foilsithe / Cruthaithe: (2025-10-01)