De novo mosaic MECP2 mutation in a female with Rett syndrome

We describe a female with Rett syndrome carrying a rare de novo mosaic nonsense mutation on MECP2 gene, with random X‐chromosome inactivation. Rett syndrome severity in females depends on mosaicism level and tissue specificity, X‐chromosome inactivation, epigenetics and environment. Rett syndrome sh...

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Bibliografiske detaljer
Udgivet i:Clin Case Rep
Main Authors: Alexandrou, Angelos, Papaevripidou, Ioannis, Alexandrou, Ioanna Maria, Theodosiou, Athina, Evangelidou, Paola, Kousoulidou, Ludmila, Tanteles, George, Christophidou‐Anastasiadou, Violetta, Sismani, Carolina
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2019
Fag:
Case Reports
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6389470/
https://ncbi.nlm.nih.gov/pubmed/30847208
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1985
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