Two new Rett syndrome families and review of the literature: expanding the knowledge of <it>MECP2 </it>frameshift mutations
<p>Abstract</p> <p>Background</p> <p>Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, which is usually caused by <it>de novo </it>mutations in the <it>MECP2 </it>gene. More than 70% of the disease causing <it>MECP2 &...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2011-08-01
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| Series: | Orphanet Journal of Rare Diseases |
| Online Access: | http://www.ojrd.com/content/6/1/58 |