Significant phenotypic variability in a multigenerational family with an NFIA missense mutation: Case series and review of the literature

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.

Bibliographic Details
Main Authors: Peyton Paschell, Christina Laukaitis
Format: Article
Language:English
Published: Wiley 2024-01-01
Series:Clinical Case Reports
Subjects:
corpus callosum hypoplasia
developmental delay
macrocephaly
NFIA‐related disorder
nuclear factor I
Online Access:https://doi.org/10.1002/ccr3.8307

Internet

https://doi.org/10.1002/ccr3.8307

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