Rett and Rett‐like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene
Author:
Affiliation:
1. Department of Pediatrics Peking University First Hospital Beijing China
2. Department of Neurology Harbin Children's Hospital Harbin China
Funder
National Natural Science Foundation of China
Publisher
Wiley
Subject
Genetics(clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.968
Reference55 articles.
1. IQSEC2 and X-linked syndromal intellectual disability
2. Rett‐like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5 ‐related disease
3. Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction
4. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
5. FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome
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