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, M (author)
Outros Autores: Temudo, T (author), Kay, T (author), Carrilho, I (author), Medeira, A (author), Cabral, H (author), Gomes, R (author), Lourenço, T (author), Venâncio, M (author), Calado, E (author), Moreira, A (author), Oliveira, G (author), Maciel, P (author)
Formato: article
Idioma:eng
Publicado em: 2016
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
HDE GEN
HDE NEU PED
Texto completo:http://hdl.handle.net/10400.17/2501
País:Portugal
Oai:oai:repositorio.chlc.min-saude.pt:10400.17/2501

Texto Completo

http://hdl.handle.net/10400.17/2501

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