What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?

Clinical Genetics

Volumn 82, Issue 6, 2012, Pages 526-533

  Zhang, J ^a   Bao, X ^a   Cao, G ^a   Jiang, S ^b   Zhu, X ^a   Lu, H ^c   Jia, L ^c   Pan, H ^a   Fehr, S ^d   Davis, M ^e   Leonard, H ^d   Ravine, D ^f   Wu, X ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

^b Department of Pediatrics   (China)

^c Huai'an Maternal and Child Health Care Center   (China)

^d UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^e ROYAL PERTH HOSPITAL   (Australia)

^f UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

MECP2; Mutation bias; Parental origin; Rett syndrome

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

ARTICLE; BASE PAIRING; CONFIDENCE INTERVAL; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC COUNSELING; GONADAL DISEASE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MOSAICISM; PRIORITY JOURNAL; RECURRENCE RISK; RETT SYNDROME;

EID: 84869082197     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01838.x     Document Type: Article

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