Pathogenic variant in <i>NFIA</i> associated with subdural hematomas mimicking nonaccidental trauma-Reference-Cited by-同舟云学术

Pathogenic variant in NFIA associated with subdural hematomas mimicking nonaccidental trauma

Published:2022-01-10 Issue:5 Volume:188 Page:1538-1544
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Wongkittichote Parith¹^ORCID,Kondis Jamie S.²,Peglar Lindsay M.³,Strahle Jennifer M.⁴,Miller‐Thomas Michelle⁵,Abell Katherine B.¹

Affiliation:

1. Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine St Louis Missouri USA

2. Child Abuse Pediatrics, Department of Pediatrics Washington University School of Medicine St Louis Missouri USA

3. Division of Pediatric Neurology, Department of Neurology Washington University School of Medicine St Louis Missouri USA

4. Department of Neurosurgery Washington University School of Medicine St Louis Missouri USA

5. Mallinckrodt Institute of Radiology Washington University School of Medicine St Louis Missouri USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62647

Reference37 articles.

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2. Menkes disease mimicking non-accidental injury

3. Benign familial neonatal-infantile seizures: Characterization of a new sodium channelopathy

4. Glutaric aciduria type 1 presenting as bilateral subdural hematomas mimicking nonaccidental trauma. Case report and review of the literature;Bishop F. S.;Journal of Neurosurgery,2007

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1. Significant phenotypic variability in a multigenerational family with an NFIA missense mutation: Case series and review of the literature;Clinical Case Reports;2024-01

2. Subdural hemorrhage, macrocephaly, rash, and developmental delay in an infant: A pathogenic variant in NLRP3 causes CINCA/NOMID;American Journal of Medical Genetics Part A;2023-08-07

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