Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements
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DOI: 10.1111/cge.13473
Abstract: Rett syndrome is rarely suspected in males because of the X‐linked dominant inheritance. In the literature, only six male patients have been reported with methyl‐CpG‐binding protein 2 (MECP2) mosaicism. Next‐generation sequencing (NGS) methods have enabled… read more here.
Keywords: hand movements; stereotypical hand; mosaic mecp2; rett syndrome ... See more keywords