Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation

American Journal of Medical Genetics

Volumn 122 A, Issue 3, 2003, Pages 223-226

  Hammer, Sara ^a   Dorrani, Naghmeh ^a   Hartiala, Jaana ^a   Stein, Stuart ^b,c   Schanen, N Carolyn ^a,d  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b EASTERN MAINE MEDICAL CENTER   (United States)

^c UNIVERSITY OF MAINE   (United States)

^d NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

Author keywords

MECP2; Rett syndrome; Trisomy; X chromosome

Indexed keywords

BINDING PROTEIN;

ALLELE; ARTICLE; CASE REPORT; CHILD; CHROMOSOME XQ; CPG ISLAND; DNA FLANKING REGION; FEMALE; GENE; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; HUMAN; INFANTILE AUTISM; MECP2 GENE; METHYLATION; PHENOTYPE; PRIORITY JOURNAL; RETT SYNDROME; TRISOMY; X CHROMOSOME INACTIVATION;

EID: 0141523172     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20320     Document Type: Article

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