Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma

Antzeko izenburuak

• Commentary: Case report: Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) presenting with liver cirrhosis and steroid-responsive interstitial pneumonia
  nork: Filippo M. Panfili, et al.
  Argitaratua: (2023-12-01)
• FAM111B dysregulation promotes malignancy in fibrosarcoma and POIKTMP and a low-cost method for its mutation screening
  nork: Cenza Rhoda, et al.
  Argitaratua: (2023-01-01)
• Case report: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype
  nork: Elise M. N. Ferré, et al.
  Argitaratua: (2023-02-01)
• Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma
  nork: Raphaëlle Goussot, MD, et al.
  Argitaratua: (2017-03-01)
• FAM111B knockdown attenuates tumorigenesis of ovarian cancer via the downregulation of MYC
  nork: Guoyu Yu, et al.
  Argitaratua: (2025-08-01)