Significant phenotypic variability in a multigenerational family with an NFIA missense mutation: Case series and review of the literature
Key Clinical Message We report the first multigenerational family with NFIA‐related disorder from a missense variant. This case highlights the condition's phenotypic variability and the need for genetic testing when an initial diagnosis fails to explain all symptoms.
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2024-01-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.8307 |