Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1
Abstract Background The aim of this retrospective study was to define clinical and molecular characteristics of a large sample of neurofibromatosis type 1 (NF1) patients, as well as to evaluate mutational spectrum and genotype-phenotype correlation. NF1 is a relatively common neurogenetic disorder (...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2018-04-01
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| Series: | Italian Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13052-018-0483-z |