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Mutation Report for: 445kbdel_human-NLGN4X

Name Class
445kbdel_human-NLGN4XGene_locushuman-NLGN4X
Mode_of_mutationNatural mutant
SummaryNatural mutation;Autism ;Kopp_2020_Am.J.Med.Genet.A__e62025
DiseaseNeuroligin 4 Autism AUTSX2 Asperger syndrome ASPGX2
Comment445 Kb deletion on Xp22.3 that includes the entire NLGN4X in a 2.5 year old female (46,XX) with congenital hypotonia, strabismus, ASD, and increased aggressive behavior

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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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