De novo interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X chromosome inactivation.


Loss-of-function mutations of the MECP2 gene are the cause of most cases of Rett syndrome in females, a progressive neurodevelopmental disorder characterized by severe mental retardation, global regression, hand stereotypies, and microcephaly. On the other hand, gain of dosage of this gene causes the MECP2 duplication syndrome in males characterized by… (More)
DOI: 10.1159/000330917


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