Causative role of a novel intronic indel variant in FBN1 and maternal germinal mosaicism in Marfan syndrome

Eitemau Tebyg

• A Novel Heterozygous Intronic FBN1 Variant Contributes to Aberrant RNA Splicing in Marfan Syndrome
  gan: Djouhayna Dougarem, et al.
  Cyhoeddwyd: (2024-09-01)
• Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel
  gan: A. Drackley, et al.
  Cyhoeddwyd: (2024-12-01)
• Functional Analysis of an Intronic FBN1 Pathogenic Gene Variant in a Family With Marfan Syndrome
  gan: Kui Hu, et al.
  Cyhoeddwyd: (2022-04-01)
• A novel missense variant of FBN1 gene in a Sardinian family with Marfan syndrome: a case report
  gan: Marina Marsan, et al.
  Cyhoeddwyd: (2025-03-01)
• Family-based whole-exome sequencing identifies novel loss-of-function mutations of FBN1 for Marfan syndrome
  gan: Zhening Pu, et al.
  Cyhoeddwyd: (2018-11-01)