A novel frameshift insertion variant in the TCOF1 gene associated with Treacher Collins syndrome

Ижил төстэй зүйлс

• Identification of novel TCOF1 mutations in Treacher Collins syndrome and their functional characterization
  -н: Ying Chen, зэрэг
  Хэвлэсэн: (2025-04-01)
• Prenatally diagnosed microdeletion in the TCOF1 gene in fetal congenital primary Treacher Collins Syndrome
  -н: Wei Shin Chou, зэрэг
  Хэвлэсэн: (2022-05-01)
• Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome
  -н: Dan‐Yan Zhuang, зэрэг
  Хэвлэсэн: (2024-03-01)
• A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome
  -н: Haojie Sun, зэрэг
  Хэвлэсэн: (2024-03-01)
• Deciphering TCOF1 mutations in Chinese Treacher Collins syndrome patients: insights into pathogenesis and transcriptional disruption
  -н: Zhuoyuan Jiang, зэрэг
  Хэвлэсэн: (2025-02-01)