Article
Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2.
Human mutation - 1 Dec 2005
Buckley Patrick G, Mantripragada Kiran K, Díaz de Ståhl Teresita, Piotrowski Arkadiusz, Hansson Caisa M, Kiss Hajnalka, Vetrie David, Ernberg Ingemar T, Nordenskjöld Magnus, Bolund Lars, Sainio Markku, Rouleau Guy A, Niimura Michihito, Wallace Andrew J, Evans D Gareth R, Grigelionis Gintautas, Menzel Uwe, Dumanski Jan P
Abstract excerpt
Schwannomatosis is characterized by multiple peripheral and cranial nerve schwannomas that occur in the absence of bilateral 8th cranial nerve schwannomas. The latter is the main diagnostic criterion of neurofibromatosis type 2 (NF2), which is a related but distinct disorder. The genetic factors underlying the differences between schwannomatosis and NF2 are poorly understood, although available evidence...
Topics
- Adaptor Proteins, Signal Transducing
- Calcineurin
- Chromosome Aberrations
- Chromosome Mapping
- Chromosomes, Human, Pair 22
- Computational Biology
- Diagnosis, Differential
- Gene Dosage