Article
Expanding the mutational spectrum of LZTR1 in schwannomatosis.
European journal of human genetics : EJHG - 1 Jul 2015
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
Abstract excerpt
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 SMARCB1 deleterious variants. We identified four individuals with heterozygous loss-of-function variants in LZTR1....
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