MECP2 mutation screening in Swedish classical Rett syndrome females.
Rett syndrome (RS) is a neurodevelopmental disorder almost exclusively affecting females. We have studied the mutation spectrum of the responsible gene MECP2, encoding methyl-CpG-binding protein 2 (MeCP2), in 16 sporadic classical RS females from Sweden. In 13 of 16 patients (81%) we detected nonsen...
| Published in: | European Child & Adolescent Psychiatry Vol. 10; no. 2; pp. 117 - 122 |
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| Main Authors: | , , , , |
| Format: | research tables/charts tracings Journal Article |
| Published: |
Springer Nature
2001
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| Online Access: | View this record in EBSCOhost |