Classic rett syndrome in a boy as a result of somatic mosaicism for a mecp2 mutation

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Published in:Annals of neurology 2001-11, Vol.50 (5), p.692-692
Main Authors: Armstrong, Judith, Póo, Pilar, Pineda, Mercè, Aibar, Elena, Geán, Esther, Català, Vicenç, Monrós, Eugènia
Format: Article
Language:English
Subjects:
Adolescent
Chromosomal Proteins, Non-Histone
Diagnosis, Differential
DNA Mutational Analysis
DNA-Binding Proteins - genetics
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Klinefelter Syndrome - diagnosis
Male
Methyl-CpG-Binding Protein 2
Mosaicism - diagnosis
Mosaicism - genetics
Mutation
Polymerase Chain Reaction - methods
Repressor Proteins - genetics
Rett Syndrome - diagnosis
Rett Syndrome - genetics
X Chromosome - genetics
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subjects Adolescent
Chromosomal Proteins, Non-Histone
Diagnosis, Differential
DNA Mutational Analysis
DNA-Binding Proteins - genetics
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Klinefelter Syndrome - diagnosis
Male
Methyl-CpG-Binding Protein 2
Mosaicism - diagnosis
Mosaicism - genetics
Mutation
Polymerase Chain Reaction - methods
Repressor Proteins - genetics
Rett Syndrome - diagnosis
Rett Syndrome - genetics
X Chromosome - genetics
title Classic rett syndrome in a boy as a result of somatic mosaicism for a mecp2 mutation
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