Associated Papers
Intellectual disorder type 98 caused by a novel NEXMIF variant: a case report and literature review.
Zhu Y et al.
Frontiers in Medicine, 2026
41728594 (PubMed )
Supplement: Data_Sheet_1.docx
KIAA2022/NEXMIF c.1882C>T (p.Arg628*) Variant in a Romanian Patient with Neurodevelopmental Disorders and Epilepsy: A Case Report and Systematic Review.
Anastasescu CM et al.
Life (basel, Switzerland), 2025
NEXMIF pathogenic variant in a female child with epilepsy and multiple organ failure: a case report.
Wang L et al.
Translational Pediatrics, 2023
Loss of Nexmif results in the expression of phenotypic variability and loss of genomic integrity.
Stekelenburg C et al.
Scientific Reports, 2022
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Stamberger H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Novel NEXMIF gene pathogenic variant in a female patient with refractory epilepsy and intellectual disability.
Wu D et al.
American Journal of Medical Genetics. Part A, 2020
Torpedo Maculopathy Associated with NEXMIF Mutation.
Alarcon-Martinez T et al.
Molecular Syndromology, 2019
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.
Lambert N et al.
Journal of Human Genetics, 2018
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