Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature
V Bertini, F Cambi, A Orsini, A Bonuccelli, A Fiorini… - Genes, 2022 - mdpi.com
The NFIA (nuclear factor I/A) gene encodes for a transcription factor belonging to the nuclear
factor I family and has key roles in various embryonic differentiation pathways. In humans …
factor I family and has key roles in various embryonic differentiation pathways. In humans …
Subdural hemorrhage, macrocephaly, rash, and developmental delay in an infant: A pathogenic variant in NLRP3 causes CINCA/NOMID
AS Koti, A Lanis, S Finlayson, S Canny… - American Journal of …, 2023 - Wiley Online Library
Subdural hemorrhages (SDHs) in children are most often observed in abusive head trauma
(AHT), a distinct form of traumatic brain injury, but they may occur in other conditions as well …
(AHT), a distinct form of traumatic brain injury, but they may occur in other conditions as well …
[HTML][HTML] Significant phenotypic variability in a multigenerational family with an NFIA missense mutation: Case series and review of the literature
P Paschell, C Laukaitis - Clinical Case Reports, 2024 - ncbi.nlm.nih.gov
1. BACKGROUND Nuclear factor I/A (NFIA) is part of a larger family of proteins, the nuclear
factor I (NFI) proteins, that function as cellular transcription factors. NFIA is encoded by the …
factor I (NFI) proteins, that function as cellular transcription factors. NFIA is encoded by the …