Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation
PurposeNeurofibromatosis type 1 (NF1) is characterized by a highly variable clinical presentation, but almost all NF1-affected adults present with cutaneous and/or subcutaneous neurofibromas. Exceptions are individuals heterozygous for the NF1 in-frame deletion, c.2970_2972del (p.Met992del), associa...
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Natura: | Artigo |
Lingua: | inglese |
Pubblicazione: |
2018
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Accesso online: | https://doi.org/10.1038/s41436-018-0269-0 https://www.nature.com/articles/s41436-018-0269-0.pdf |
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