Two novel germline mutations of the retinoblastoma gene (RB1) that show incomplete penetrance, one splice site and one missense

Lignende værker

• Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype.
  af: Onadim, Z, et al.
  Udgivet: (1992)
• Temperature-Sensitive RB Mutations Linked to Incomplete Penetrance of Familial Retinoblastoma in 12 Families
  af: Otterson, Gregory A., et al.
  Udgivet: (1999)
• Incomplete penetrance of familial retinoblastoma linked to germ-line mutations that result in partial loss of RB function
  af: Otterson, Gregory A., et al.
  Udgivet: (1997)
• Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas
  af: Cygan, Kamil J., et al.
  Udgivet: (2017)
• Osteosarcoma without prior retinoblastoma related to RB1 low‐penetrance germline pathogenic variants: A novel type of RB1‐related hereditary predisposition syndrome?
  af: Imbert‐Bouteille, Marion, et al.
  Udgivet: (2019)