Nance–Horan syndrome pedigree due to a novel microdeletion and skewed X chromosome inactivation
Author:
Affiliation:
1. Department of Medical Genetics Changde First People's Hospital Changde China
2. Affiliated Hospital of Changde City University of South China Hengyang China
Publisher
Wiley
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2100
Reference32 articles.
1. Autism Spectrum Disorder in a Girl with aDe NovoX;19 Balanced Translocation
2. Conservation of position and exclusive expression of mouse Xist from the inactive X chromosome
3. Identification of the gene for Nance-Horan syndrome (NHS)
4. The Nance–Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology
5. A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome
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