Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes

Brain and Development

Volumn 33, Issue 1, 2011, Pages 69-76

  Temudo, Teresa ^a   Santos, Mónica ^b,c   Ramos, Elisabete ^d   Dias, Karin ^e   Vieira, José Pedro ^e   Moreira, Ana ^e   Calado, Eulália ^e   Carrilho, Inês ^f   Oliveira, Guiomar ^g   Levy, António ^h   Barbot, Clara ^f   Fonseca, Maria ⁱ   Cabral, Alexandra ^g   Cabral, Pedro ^j   Monteiro, José ⁱ   Borges, Luís ^g   Gomes, Roseli ^k   Mira, Graça ^l   Aires Pereira, Susana ^m   Santos, Manuela ^f   Fernandes, Anabela ^b   Epplen, Jorg T ⁿ   Sequeiros, Jorge ^c,o   Maciel, Patrícia ^b   more..

^a HOSPITAL DE SANTO ANTÓNIO   (Portugal)

^b UNIVERSITY OF MINHO   (Portugal)

^c UNIVERSITY OF PORTO   (Portugal)

^d University of Porto   (Portugal)

^e D Estefânia Hospital   (Portugal)

^f HOSPITAL MARIA PIA   (Portugal)

^g CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^h HOSPITAL DE SANTA MARIA   (Portugal)

ⁱ HOSPITAL GARCIA DE ORTA   (Portugal)

^j HOSPITAL EGAS MONIZ   (Portugal)

^k HOSPITAL PEDRO HISPANO   (Portugal)

^l Hospital do Espirito Santo   (Portugal)

^m Vila Nova de Gaia Hospital   (Portugal)

ⁿ RUHR UNIVERSITY BOCHUM   (Germany)

^o UNIVERSITY OF PORTO   (Portugal)

more..

Author keywords

Autism; Cerebellum; Clinical criteria; Clinical stage; Mental retardation; Movement disorder

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

ADOLESCENT; ARTICLE; ATAXIA; AUTISM; CHILD; CLINICAL FEATURE; COMPREHENSION; CONTROLLED STUDY; DYSTONIA; EYE MOVEMENT; GAIT DISORDER; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HUMAN; HYPERACTIVITY; MAJOR CLINICAL STUDY; MALE; MICROCEPHALY; MISSENSE MUTATION; PRESCHOOL CHILD; PSYCHOMOTOR DEVELOPMENT; RETT SYNDROME; RIGIDITY; STEREOTYPY;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; HUMANS; METHYL-CPG-BINDING PROTEIN 2; MUTATION; PHENOTYPE; RETT SYNDROME;

EID: 78650306582     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2010.01.004     Document Type: Article

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