Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome
Author:
Affiliation:
1. Greenwood Genetic Center Greenwood South Carolina USA
2. PreventionGenetics LLC Marshfield Wisconsin USA
3. Sanofi Bridgewater New Jersey USA
4. Myriad Genetics Salt Lake City Utah USA
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62913
Reference35 articles.
1. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
2. Classic rett syndrome in a boy as a result of somatic mosaicism for amecp2mutation
3. Investigating genotype-phenotype relationships in Rett syndrome using an international data set
4. The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome
5. Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males
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1. Human embryonic genetic mosaicism and its effects on development and disease;Nature Reviews Genetics;2024-04-11
2. Mecp2 Variants in Males: More Common than Previously Appreciated;2024
3. MeCP2 ubiquitination and sumoylation, in search of a function;Human Molecular Genetics;2023-09-11
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