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

• Main Authors: Juyal Ramesh (Author), Kabra Madhulika (Author), Mittal Kirti (Author), BK Thelma (Author)
• Format: Knjiga
• Izdano: BMC, 2011-08-01T00:00:00Z.
• Teme: article
• Online dostop: 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...