The phenotype associated with a large deletion on MECP2

European Journal of Human Genetics

Volumn 20, Issue 9, 2012, Pages 921-927

  Bebbington, Ami ^a   Downs, Jenny ^a,b   Percy, Alan ^c   Pineda, Mercé ^d   Zeev, Bruria Ben ^e   Bahi Buisson, Nadia ^f   Leonard, Helen ^a  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b CURTIN UNIVERSITY   (Australia)

^c UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^d HOSPITAL SANT JOAN DE DÉU   (Spain)

^e SHEBA MEDICAL CENTER   (Israel)

^f UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

large deletion; phenotype; rett syndrome

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

ADOLESCENT; ADULT; ARTICLE; BREATHING DISORDER; CHILD; CONTROLLED STUDY; DATA BASE; DISEASE SEVERITY; EPILEPSY; FEMALE; GENE; GENE DELETION; HUMAN; INFANT; MAJOR CLINICAL STUDY; MECP2 GENE; MOTOR PERFORMANCE; ONSET AGE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETT SYNDROME; SCHOOL CHILD; SCOLIOSIS; STEREOTYPY; WALKING;

ADOLESCENT; ADULT; AGE OF ONSET; AUSTRALIA; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; INFANT; MALE; METHYL-CPG-BINDING PROTEIN 2; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MULTIPLEX POLYMERASE CHAIN REACTION; PHENOTYPE; QUESTIONNAIRES; RETT SYNDROME; SEQUENCE DELETION; SEVERITY OF ILLNESS INDEX;

EID: 84865212498     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.34     Document Type: Article

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