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

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Bibliographic Details
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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