<it>De novo </it>deletion in <it>MECP2 </it>in a monozygotic twin pair: a case report

• 主要な著者: Juyal Ramesh (著者), Kabra Madhulika (著者), Mittal Kirti (著者), BK Thelma (著者)
• フォーマット: 図書
• 出版事項: BMC, 2011-08-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Rett syndrome (RTT) is a severe, progressive, neurodevelopmental disorder predominantly observed in females that leads to intellectual disability. Mutations and gross rearrangements in <it>MECP2 </it>account for a large p...