Case Report: Phenotypic heterogeneity within an NF1 family: assessment of the pathogenicity of a de novo c.6640dupA shift mutation and a splice variant with an epilepsy phenotype
PurposeNeurofibromatosis type 1 (NF1) is a complex autosomal dominant disorder with wide variability in its clinical presentation, rate of progression, and severity of complications. The majority of patients have point mutations, but no specific mutational hotspots have been identified. The aim of t...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-07-01
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| Series: | Frontiers in Neuroscience |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fnins.2025.1604771/full |
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