Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1
Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1
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Publisher
England: BioMed Central
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Language
English
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Publisher
England: BioMed Central
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Contents
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 (1:2500-1:3000 individuals). It is caused by mutations of the NF1 gene...
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Full title
Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1
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TN_cdi_doaj_primary_oai_doaj_org_article_e17ea9c344174a8098d249418cd756a1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e17ea9c344174a8098d249418cd756a1
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ISSN
1824-7288
E-ISSN
1824-7288
DOI
10.1186/s13052-018-0483-z
