An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion

Eitemau Tebyg

• High Frequency of Mosaicism among Patients with Neurofibromatosis Type 1 (NF1) with Microdeletions Caused by Somatic Recombination of the JJAZ1 Gene
  gan: Kehrer-Sawatzki, H., et al.
  Cyhoeddwyd: (2004)
• Constitutional Haploinsufficiency of Tumor Suppressor Genes in Mentally Retarded Patients With Microdeletions in 17p13.1
  gan: Krepischi-Santos, A.C.V., et al.
  Cyhoeddwyd: (2009)
• Fused teeth, macrodontia and increased caries are characteristic features of neurofibromatosis type 1 patients with NF1 gene microdeletion
  gan: Kobayashi, Ryosuke, et al.
  Cyhoeddwyd: (2012)
• The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas
  gan: Pemov, A, et al.
  Cyhoeddwyd: (2017)
• An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes.
  gan: Easton, D F, et al.
  Cyhoeddwyd: (1993)