Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

Constitutional SMARCB1 mutations at 22q11.23 have been found in ~50% of familial and <10% of sporadic schwannomatosis cases(1). We sequenced highly conserved regions along 22q from eight individuals with schwannomatosis whose schwannomas involved somatic loss of one copy of 22q, encompassing SMAR...

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Veröffentlicht in:Nat Genet
Hauptverfasser: Piotrowski, Arkadiusz, Xie, Jing, Liu, Ying F, Poplawski, Andrzej B, Gomes, Alicia R, Madanecki, Piotr, Fu, Chuanhua, Crowley, Michael R, Crossman, David K, Armstrong, Linlea, Babovic-Vuksanovic, Dusica, Bergner, Amanda, Blakeley, Jaishri O, Blumenthal, Andrea L, Daniels, Molly S, Feit, Howard, Gardner, Kathy, Hurst, Stephanie, Kobelka, Christine, Lee, Chung, Nagy, Rebecca, Rauen, Katherine A, Slopis, John M, Suwannarat, Pim, Westman, Judith A, Zanko, Andrea, Korf, Bruce R, Messiaen, Ludwine M
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2013
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4352302/
https://ncbi.nlm.nih.gov/pubmed/24362817
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.2855
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