Segmental neurofibromatosis type 2: discriminating two hit from four hit in a patient presenting multiple schwannomas confined to one limb-Reference-Cited by-同舟云学术

Segmental neurofibromatosis type 2: discriminating two hit from four hit in a patient presenting multiple schwannomas confined to one limb

Published:2015-01-24 Issue:1 Volume:8 Page:
ISSN:1755-8794
Container-title:BMC Medical Genomics
language:en
Short-container-title:BMC Med Genomics

Author:

Castellanos Elisabeth, ,Bielsa Isabel,Carrato Cristina,Rosas Imma,Solanes Ares,Hostalot Cristina,Amilibia Emilio,Prades José,Roca-Ribas Francesc,Lázaro Conxi,Blanco Ignacio,Serra Eduard

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/article/10.1186/s12920-015-0076-2/fulltext.html

Reference18 articles.

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3. Hulsebos TJ, Plomp AS, Wolterman RA, Robanus-Maandag EC, Baas F, Wesseling P. Germline mutation of INI1/SMARCB1 in familial schwannomatosis. Am J Hum Genet. 2007;80(4):805–10.

4. Boyd C, Smith MJ, Kluwe L, Balogh A, Maccollin M, Plotkin SR. Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis. Clin Genet. 2008;74(4):358–66.

5. Hadfield KD, Newman WG, Bowers NL, Wallace A, Bolger C, Colley A, et al. Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. J Med Genet. 2008;45(6):332–9.

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