Article
Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report.
BMC medical genetics - 8 Jan 2020
Poisson Alice, Chatron Nicolas, Labalme Audrey, Fourneret Pierre, Ville Dorothée, Mathieu Marie Laure, Sanlaville Damien, Demily Caroline, Lesca Gaëtan
Abstract excerpt
BACKGROUND: The role of deleterious copy number variations in schizophrenia is well established while data regarding pathogenic variations remain scarce. We report for the first time a case of schizophrenia in a child with a pathogenic mutation of the chromodomain helicase DNA binding protein 2 (CHD2) gene. CASE PRESENTATION: The proband was the second child of unrelated parents. Anxiety and sleep disorders...
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