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...

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Vydáno v:Eur J Hum Genet
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2015
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On-line přístup: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
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