Associated Papers
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
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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