Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome

American Journal of Medical Genetics, Part A

Volumn 152 A, Issue 10, 2010, Pages 2535-2542

  Fehr, Stephanie ^a   Downs, Jenny ^a,b   Bebbington, Ami ^a   Leonard, Helen ^a  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b CURTIN UNIVERSITY   (Australia)

Author keywords

Age at diagnosis; MECP2; Rett syndrome; Socio economic status; Symptom presentation

Indexed keywords

ARTICLE; AUSTRALIA; BIRTH ORDER; CHILD; CLINICAL FEATURE; DELAYED DIAGNOSIS; DISEASE COURSE; EDUCATIONAL STATUS; FEMALE; GENE; GENE MUTATION; GENOTYPE; HAND FUNCTION; HUMAN; MAJOR CLINICAL STUDY; MATERNAL AGE; MECP2 GENE; MOTOR DYSFUNCTION; OCCUPATION; ONSET AGE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETT SYNDROME; SOCIOECONOMICS; SPEECH DISORDER; ADULT; GENETICS; INFANT; MALE; MUTATION;

MECP2 PROTEIN, HUMAN; METHYL CPG BINDING PROTEIN 2;

ADULT; AUSTRALIA; EDUCATIONAL STATUS; FEMALE; GENOTYPE; HUMANS; INFANT; MALE; MATERNAL AGE; METHYL-CPG-BINDING PROTEIN 2; MUTATION; RETT SYNDROME; SOCIOECONOMIC FACTORS;

EID: 78349293791     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33640     Document Type: Article

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