The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene

Hasonló tételek

• A novel missense mutation of the CYLD gene identified in a Hungarian family with Brooke-Spiegler syndrome
  Szerző: Nagy Nikoletta, et al.
  Megjelent: (2012)
• A novel missense mutation of the CYLD gene identified in a Hungarian family with Brooke-Spiegler syndrome
  Szerző: Nagy Nikoletta, et al.
  Megjelent: (2012)
• Brooke-Spiegler Syndrome Two Patients From a Turkish Family With Multiple Familial Trichoepithelioma /
  Szerző: Gunes Cakmak Genc, et al.
  Megjelent: (2019)
• Intra-familial variability of ectodermal defects associated with WNT10A mutations
  Szerző: Wedgeworth Emma K., et al.
  Megjelent: (2011)
• A mutational hotspot in CYLD causing cylindromas a comparison of phenotypes arising in different genetic backgrounds /
  Szerző: Nagy Nikoletta, et al.
  Megjelent: (2013)