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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Detalhes bibliográficos
Autor principal: Santos, Mónica (author)
Outros Autores: 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)
Formato: article
Idioma:eng
Publicado em: 2009
Assuntos:
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
Texto completo:http://hdl.handle.net/1822/67637
País:Portugal
Oai:oai:repositorium.sdum.uminho.pt:1822/67637

Texto Completo

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

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