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Two affected boys in a Rett syndrome family | Researchclopedia

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Two affected boys in a Rett syndrome family

2000195 citationsJournal Article

Authors

Laurent Villard · Inserm

Arlette Kpebe · Inserm

Carlos Cardoso · Inserm

Jamel Chelly · Inserm

Marc Tardieu · Inserm

M. Fontés · Inserm

Abstract

An MECP2 mutation can be identified in boys, even though they do not present a Rett syndrome phenotype.

Topics & Keywords

Genetics and Neurodevelopmental Disorders Epigenetics and DNA Methylation RNA modifications and cancer

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Neurology

Volume 55, Issue 8, pp. 1188-1193

DOI: 10.1212/wnl.55.8.1188

Field-Weighted Citation Impact: 13.94