Expanding the mutational spectrum of LZTR1 in schwannomatosis

Schwannomatosis is characterized by the development of multiple non-vestibular, non-intradermal schwannomas. Constitutional inactivating variants in two genes, SMARCB1 and, very recently, LZTR1, have been reported. We performed exome sequencing of 13 schwannomatosis patients from 11 families without...

全面介紹

Na minha lista:
書目詳細資料
發表在:Eur J Hum Genet
Main Authors: Paganini, Irene, Chang, Vivian Y, Capone, Gabriele L, Vitte, Jeremie, Benelli, Matteo, Barbetti, Lorenzo, Sestini, Roberta, Trevisson, Eva, Hulsebos, Theo JM, Giovannini, Marco, Nelson, Stanley F, Papi, Laura
格式: Artigo
語言:Inglês
出版: Nature Publishing Group 2015
主題:
Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4463507/
https://ncbi.nlm.nih.gov/pubmed/25335493
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.220
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!

相似書籍