Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients

Rett syndrome is a genetic neurodevelopmental disorder that affects mainly girls, but mutations in the causative MECP2 gene have also been identified in boys with classic Rett syndrome and Rett syndrome-like phenotypes. We have studied a group of 28 boys with a neurodevelopmental disorder, 13 of whi...

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Bibliographic Details
Main Author: Santos, Mónica (author)
Other Authors: Temudo, Teresa (author), Kay, Teresa (author), Carrilho, Inês (author), Medeira, Ana (author), Cabral, Helena (author), Gomes, Roseli (author), Lourenço, Maria Teresa (author), Venâncio, Margarida (author), Calado, Eulália (author), Moreira, Ana (author), Oliveira, Guiomar (author), Maciel, P. (author)
Format: article
Language:eng
Published: 2009
Subjects:
Adolescent
Brain
Child
Child, Preschool
DNA Mutational Analysis
Developmental Disabilities
Humans
Magnetic Resonance Imaging
Male
Methyl-CpG-Binding Protein 2
Mutation
Phenotype
Rett Syndrome
Young Adult
Autism
Neurodevelopment
Rett
Science & Technology
Online Access:http://hdl.handle.net/1822/67637
Country:Portugal
Oai:oai:repositorium.sdum.uminho.pt:1822/67637

Internet

http://hdl.handle.net/1822/67637

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