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
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
Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with KIAA2022 pathogenic variants and review of the literature.
Lorenzo M et al.
American Journal of Medical Genetics. Part A, 2018
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
de Lange IM et al.
Journal of Medical Genetics, 2016
KIAA2022 nonsense mutation in a symptomatic female.
Farach LS et al.
American Journal of Medical Genetics. Part A, 2016
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Zhu X et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.
Kuroda Y et al.
American Journal of Medical Genetics. Part A, 2015
Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.
Van Maldergem L et al.
Human Molecular Genetics, 2013
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