An explanation for another familial case of Rett syndrome: Maternal germline mosaicism

European Journal of Human Genetics

Volumn 15, Issue 8, 2007, Pages 902-904

  Venâncio, Margarida ^a   Santos, Mónica ^b   Pereira, Susana Aires ^c   Maciel, Patrícia ^c   Saraiva, Jorge M ^a  

^a CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^b UNIVERSITY OF MINHO   (Portugal)

^c CENTRO HOSPITALAR DE VILA NOVA DE GAIA ESPINHO   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; METHYL CPG BINDING PROTEIN 2;

ARTICLE; ATAXIA; BODY DYSMORPHIC DISORDER; CASE REPORT; DEATH; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DNA EXTRACTION; FEMALE; GASTROINTESTINAL INFECTION; GENE MUTATION; GENETIC COUNSELING; GERM LINE; GROWTH RETARDATION; HAPPY PUPPET SYNDROME; HUMAN; MALE; METABOLIC DISORDER; MOSAICISM; NEUROLOGIC DISEASE; PARENT; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETT SYNDROME; STEREOTYPY;

EID: 34547229205     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201835     Document Type: Article

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