Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant
Abstract Background Rett syndrome (RTT) is a neurodevelopmental disorder that predominantly affects girls, resulting from a loss‐of‐function variant in X‐linked MECP2. Here, we report a rare case of a girl with RTT with an X chromosome mosaic karyotype (46,XX/47,XXX). Methods Fluorescent in situ hyb...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2020-03-01
|
| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.1122 |