We report an autosomal recessive neurodevelopmental disorder exclusively affecting females carrying biallelic loss-of-function variants in CIZ1, a gene encoding a nuclear matrix protein essential for the maintenance of X-chromosome inactivation. Eight unrelated affected females were identified, whereas male siblings with biallelic variants were asymptomatic. We showed that loss of CIZ1 compromises the maintenance of X-chromosome inactivation, leading to an abnormal overexpression of a subset of X-linked genes.
Real-Time Segmentation and Classification of Birdsong Syllables for Learning Experiments
Songbirds are essential animal models for studying neuronal and behavioral mechanisms of learned vocalizations. Bengalese finch (Lonchura striata domestica) songs contain a limited number of

