Article
Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing.
American journal of medical genetics. Part A - 1 Oct 2024
Abbott Megan, Angione Katie, Forbes Emily, Stoecker Mikayla, Saenz Margarita, Neul Jeffrey L, Marsh Eric D, Skinner Steven A, Percy Alan K, Benke Tim A
Abstract excerpt
Typical (or classic) Rett syndrome (RTT) is an X-linked neurodevelopmental disorder characterized by a period of regression, partial or complete loss of purposeful hand movements, and acquired speech, impaired gait, and stereotyped hand movements. In over 95% of typical RTT, a pathogenic variant is found in the methyl-CPG binding protein 2 gene (MECP2). Here, we describe a young woman with clinically diagnosed...
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